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1Academic Journal
المؤلفون: Daniel P. Caley, Ryan C. Pink, Daniel Trujillano, David R. F. Carter
المصدر: The Scientific World Journal, Vol 10, Pp 90-102 (2010)
مصطلحات موضوعية: Technology, Medicine, Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1537-744X
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2
المؤلفون: Daniel Trujillano, Hatem Zayed, Shivendra Kishore, Mohamed A. Yassin, Arndt Rolfs, Nader Al-Dewik, Tawfeg Ben-Omran
المصدر: Gene. 689:34-42
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, medicine.medical_specialty, Candidate gene, Adolescent, DNA Mutational Analysis, Pilot Projects, Arab, Biology, Middle East, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, Genotype, Epidemiology, Genetics, medicine, Humans, In patient, Family history, Qatar, Genetic Association Studies, Exome sequencing, Myeloproliferative Disorders, MPNs, Sequence Analysis, DNA, General Medicine, Middle Aged, CES, 030104 developmental biology, Hematologic Neoplasms, 030220 oncology & carcinogenesis, New disease, Mutation, Female
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3
المؤلفون: Jose Maria Garcia-Aznar, Waleed Al-Twaijri, Ahmed Al-Rumayyan, Aida M. Bertoli-Avella, Rami Abou Jamra, Omid Paknia, Anett Marais, Karen Wessel, Oliver Brandau, Rolf Schröder, Julia Köster, Maria Calvo del Castillo, Majid Alfadhel, Krishna Kumar Kandaswamy, Ali Alothaim, Amal Alhashem, Shivendra Kishore, Martin Werber, Daniel Trujillano, Nouriya Al-Sannaa, Maximilian E. R. Weiss, Arndt Rolfs, Mohammed AlBalwi, Muhammad Talal Al Rifai, Nahid Nahavandi, Wafaa Eyaid, Caterina Baldi
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Potassium Channels, Adolescent, Genotyping Techniques, Biology, Bioinformatics, Article, Sodium Channels, Nuclear Family, Mitochondrial Proteins, 03 medical and health sciences, Molecular genetics, NAV1.3 Voltage-Gated Sodium Channel, Genetics, medicine, Humans, Exome, Protoporphyrinogen Oxidase, Genetic Testing, Medical diagnosis, Child, Genetics (clinical), Exome sequencing, Genetic testing, Flavoproteins, medicine.diagnostic_test, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Infant, Sequence Analysis, DNA, Middle Aged, Voltage-Gated Sodium Channel beta-1 Subunit, Protein Tyrosine Phosphatases, Non-Receptor, Human genetics, Phenotype, 030104 developmental biology, Child, Preschool, Medical genetics, Female, Differential diagnosis
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المؤلفون: Katta M. Girisha, Shrijeet Chakraborti, Daniel Trujillano, Anju Shukla, Stephanie L. Bielas, Harsha Prasada L, Arndt Rolfs, Krishna Kumar Kandaswamy, Malavika Hebbar, Nutan Kamath, Ashwin Dalal, Aneek Das Bhowmik
المصدر: American Journal of Medical Genetics Part A. 170:2486-2489
مصطلحات موضوعية: 0301 basic medicine, Genetics, Niemann–Pick disease, type C, Extramural, 030105 genetics & heredity, Biology, medicine.disease, Article, 03 medical and health sciences, Exon, medicine, Niemann–Pick disease, Genetics (clinical), Exome sequencing
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المؤلفون: Arndt Rolfs, Anju Shukla, Malavika Hebbar, Katta M. Girisha, Gandham SriLakshmi Bhavani, Rajagopal Kadavigere, Daniel Trujillano
المصدر: Clinical Genetics. 90:536-539
مصطلحات موضوعية: 0301 basic medicine, Genetics, Ectodermal dysplasia, Cilium, 030105 genetics & heredity, Biology, medicine.disease, Ciliopathies, Short stature, Sensenbrenner syndrome, 03 medical and health sciences, Ciliopathy, 030104 developmental biology, Intraflagellar transport, medicine, sense organs, medicine.symptom, Cranioectodermal Dysplasia, Genetics (clinical)
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المؤلفون: I. De Toma, Daniel Trujillano, Ilona E. Grabowicz, Bartek Wilczyński, Mara Dierssen, Marta Fructuoso
المصدر: eNeuro
مصطلحات موضوعية: obesity, Gene Expression, Biology, Models, Biological, Nesting Behavior, Transcriptome, 03 medical and health sciences, Mice, 0302 clinical medicine, Gene expression, Transcriptional regulation, Animals, Homeostasis, Overeating, Correlation of Data, TADs, Gene, 030304 developmental biology, 0303 health sciences, hedonic and homeostatic responses, General Neuroscience, Brain, Computational Biology, 3.1, General Medicine, Feeding Behavior, Overweight, New Research, Microarray Analysis, Grooming, Chromatin, Diet, Mice, Inbred C57BL, Gene Expression Regulation, Hypothalamus, Compulsive Behavior, Female, Disorders of the Nervous System, sense organs, Neuroscience, 030217 neurology & neurosurgery
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المؤلفون: Yaopan Mao, Katelynn Toomer, Charles Simpson, David J. Milan, David S. Peal, Francesca N. Delling, Roger R. Markwald, Jorge Solis, Maelle Perrocheau, Ronen Durst, Lisa A. Freed, Amanda J. Johnson, Annemarieke DeVlaming, Christopher Jett, Xavier Estivill, Leticia Fernández-Friera, Adrian H. Chester, Michel Pucéat, Matthew R. Stone, Maire Leyne, Thierry Le Tourneau, Susan A. Slaugenhaupt, Christian Dina, Jean-Jacques Schott, Monica Salani, Kenneth D. Irvine, Katherine Williams, Kimberly Sauls, Andy Wessels, Yoshikazu Tsukasaki, Daniel Trujillano, Xingju Nie, Herve LeMarec, Florie A. Charles, Patrick Bruneval, Donald R. Menick, Robert A. Levine, Stephan Ossowski, Russell A. Norris, Michael E. Talkowski, Harinath Kasiganesan, Nabila Bouatia-Naji, Ann-Marie Broome, Stacey N. Lynch, Tahirali Motiwala, Harrison Brand, Christophe Tribouilloy, Colby Chiang, Albert Hagège, Xavier Jeunemaitre
المساهمون: Center for humana genetic research, Harvard Medical School [Boston] (HMS), Dipartimento di Biologia Cellulare e dello Sviluppo, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Mécanismes physiologiques et conséquences des calcifications cardiovasculaires: rôle des remodelages cardiovasculaires et osseux, Université de Picardie Jules Verne (UPJV)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Laser Processing Group, Center for Genomic Regulation (CRG-UPF), CIBER de Epidemiología y Salud Pública (CIBERESP), Laboratoire de Recherche en Imagerie : Méthodes d'imagerie des Échanges transcapillaires (LRI - EA4062), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Paris Descartes - Paris 5 (UPD5), Service de cardiologie [CHU HEGP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Università degli Studi di Roma 'La Sapienza' [Rome], Université Paris Descartes - Paris 5 (UPD5)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)
المصدر: Nature
Nature, 2015, Equipe 3, 525 (7567), pp.109--113. ⟨10.1038/nature14670⟩
Nature, Nature Publishing Group, 2015, Equipe 3, 525 (7567), pp.109--113. ⟨10.1038/nature14670⟩مصطلحات موضوعية: Male, Pathology, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Messenger, 030204 cardiovascular system & hematology, medicine.disease_cause, Mice, 0302 clinical medicine, Cell Movement, Mitral valve, Missense mutation, Mitral valve prolapse, Atrioventricular canal defect, Pair 11, Zebrafish, Genetics, 0303 health sciences, Mutation, Multidisciplinary, Mitral Valve Prolapse, Protein Stability, Cadherins, 3. Good health, Pedigree, medicine.anatomical_structure, Phenotype, cardiovascular system, Mitral Valve, Female, Human, medicine.medical_specialty, Cadherin Related Proteins, Biology, Chromosomes, Article, 03 medical and health sciences, medicine, Animals, Humans, RNA, Messenger, 030304 developmental biology, Body Patterning, Mitral regurgitation, Mitral valve repair, DCHS1, Chromosomes, Human, Pair 11, Zebrafish Proteins, medicine.disease, RNA
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المؤلفون: Sabrina Eichler, Maximilian E. R. Weiss, Arndt Rolfs, Jenny Creed, Efstathios B. Papachristos, Erol Baysal, Martin Werber, Julia Köster, Iqbal Yousuf Jaber, Krishna Kumar Kandaswamy, Anett Marais, Chantal Farra, Dina A. Mehaney, Daniel Trujillano
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: validation, Genetics, Sanger sequencing, medicine.diagnostic_test, Original Articles, Ion semiconductor sequencing, Biology, Ion Torrent, Molecular diagnostics, DNA sequencing, cystic fibrosis, molecular diagnostics, genomic DNA, symbols.namesake, medicine, symbols, next-generation sequencing, CFTR, Allele, Molecular Biology, Genetics (clinical), Genetic testing, Reference genome
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المؤلفون: Xavier Estivill, M. I. Gonzalez, Maria D. Ramos, Josep M. Manzanares, S. Gartner, Teresa Casals, Daniel Trujillano, Stephan Ossowski, F. Sotillo, C. Vazquez, R. Olivar, C. Oliva, E. Quintana, J. Costa
المصدر: Clinical Genetics. 86:91-95
مصطلحات موضوعية: Genetics, Sanger sequencing, 0303 health sciences, Candidate gene, medicine.diagnostic_test, biology, Sequence analysis, medicine.disease, Cystic fibrosis, Phenotype, Cystic fibrosis transmembrane conductance regulator, 3. Good health, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, 030220 oncology & carcinogenesis, Genotype, medicine, biology.protein, symbols, Genetics (clinical), Sweat test, 030304 developmental biology
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المؤلفون: Geòrgia Escaramís, Maria D. Ramos, Xavier Estivill, Daniel Trujillano, J. R. Gonzalez, Cristian Tornador, F. Sotillo, Stephan Ossowski, Lluís Armengol, Teresa Casals
المصدر: Journal of Medical Genetics; Vol 50
مصطلحات موضوعية: Male, medicine.medical_specialty, Cystic Fibrosis, Molecular Sequence Data, Cystic Fibrosis Transmembrane Conductance Regulator, Biology, Cystic fibrosis, Cohort Studies, 03 medical and health sciences, Exon, Vas Deferens, Molecular genetics, Genetics, medicine, Humans, Multiplex, Genetic Testing, Gene, Infertility, Male, Genetics (clinical), 030304 developmental biology, Genetic testing, 0303 health sciences, Polymorphism, Genetic, Base Sequence, medicine.diagnostic_test, Point mutation, 030305 genetics & heredity, Exons, medicine.disease, Bronchiectasis, 3. Good health, Medical genetics
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المؤلفون: Justo González, Rosa Navarrete, Geòrgia Escaramís, Daniel Trujillano, Stephan Ossowski, Belén Pérez, Verónica Cornejo, Magdalena Ugarte, Xavier Estivill, Cristian Tornador, Lourdes R. Desviat, Lluís Armengol
المصدر: European Journal of Human Genetics
European Journal of Human Genetics; Vol 22مصطلحات موضوعية: Genotype, Biology, Sensitivity and Specificity, Article, Cohort Studies, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Hyperphenylalaninemia, Phenylketonurias, Genetics, medicine, Humans, Tetrahydrobiopterin deficiency, Gene, Genetics (clinical), Gene Library, Sequence Deletion, 030304 developmental biology, Gene Rearrangement, Sanger sequencing, 0303 health sciences, Genome, Human, Point mutation, Breakpoint, Computational Biology, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Exons, Genomics, Sequence Analysis, DNA, medicine.disease, Molecular diagnostics, Biopterin, 3. Good health, QDPR, symbols, 030217 neurology & neurosurgery
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المؤلفون: Rami Abou Jamra, Aida M. Bertoli-Avella, Yvonne Schmitz, Gabriela-Elena Oprea, Arndt Rolfs, Daniel Trujillano
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: 0301 basic medicine, Proband, rare disease, computer.software_genre, 03 medical and health sciences, Patient safety, Human Phenotype Ontology, Genetics, Medicine, Medical diagnosis, Molecular Biology, Genetics (clinical), Database, business.industry, Original Articles, Biomarker (cell), 030104 developmental biology, Data quality, Clinical diagnostics, Hereditary Diseases, variant database, Original Article, HPO, business, computer, Rare disease
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المؤلفون: Collet Dandara, Talantbek Batyraliev, Daniel Trujillano, Serdar Türkmen, Wei Wang, Zarema Karben, Arndt Rolfs, Eyup Ilker Saygili, Nezih Hekim, Mehmet Ali İkidağ, Deniz Mıhcıoğlu, Mehmet Ali Cüce, Zafer Cetin
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Left coronary artery, medicine.artery, Genetics, medicine, Bland-White-Garland Syndrome, Molecular Biology, Letter to the Editor, Exome sequencing, biology, business.industry, Cystic fibrosis transmembrane conductance regulator, 030104 developmental biology, Mutation (genetic algorithm), Pulmonary artery, biology.protein, Molecular Medicine, business, 030217 neurology & neurosurgery, Biotechnology, Plakophilins, Rare disease
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المؤلفون: Antoine Rimbert, Solena Le Scouarnec, Xavier Estivill, Nabila Bouatia-Naji, Thierry Le Tourneau, Simon Lecointe, Jean Mérot, Daniel Trujillano, Caroline Cueff, Xavier Jeunemaitre, Hervé Le Marec, Albert Hagège, Florence Kyndt, Jean-Jacques Schott
المصدر: Archives of Cardiovascular Diseases Supplements. 7(2)
مصطلحات موضوعية: Candidate gene, education.field_of_study, business.industry, Population, Bioinformatics, medicine.disease, Phenotype, medicine.anatomical_structure, Mitral valve, FLNA, Medicine, Mitral valve prolapse, Missense mutation, business, education, Cardiology and Cardiovascular Medicine, Exome sequencing
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المؤلفون: Daniel Trujillano, José Ballarín, Elisabet Ars, Stephan Ossowski, Gloria Fraga, Gemma Bullich, Santiago Mendizábal, Roser Torra, A. Madrid, Sheila Santín, Xavier Estivill, Gema Ariceta
المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Europe PubMed Central
European Journal of Human Geneticsمصطلحات موضوعية: Male, Nephrotic Syndrome, Gene Expression, Bioinformatics, medicine.disease_cause, urologic and male genital diseases, Autoantigens, Severity of Illness Index, Focal segmental glomerulosclerosis, Genotype, Actinin, Child, Genetics (clinical), Sanger sequencing, Genetics, Mutation, Massive parallel sequencing, Glomerulosclerosis, Focal Segmental, Microfilament Proteins, High-Throughput Nucleotide Sequencing, Middle Aged, 3. Good health, Phenotype, Genetic diagnosis, Child, Preschool, symbols, Medical genetics, Female, Adult, Collagen Type IV, medicine.medical_specialty, Adolescent, Formins, Biology, Article, symbols.namesake, Genetic Heterogeneity, Molecular genetics, SRNS, medicine, TRPC6 Cation Channel, Humans, Steroid-resistant nephrotic syndrome, TRPC Cation Channels, Genetic heterogeneity, Infant, medicine.disease, FSGS
وصف الملف: application/pdf
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المؤلفون: Abdulrhman A. Alqahtani, Hussam Assiri, Hesham Alshaalan, Shatha Al Rasheed, Daniel Trujillano, Arndt Rolfs, Majid Alfadhel, Wafaa Eyaid, Muhammad Talal Alrifai, Ali Al Othaim, Manal Alaamery
المصدر: JIMD Reports ISBN: 9783662474525
مصطلحات موضوعية: medicine.medical_specialty, Delayed myelination, business.industry, ASPARAGINE SYNTHETASE DEFICIENCY, macromolecular substances, Metabolism, medicine.disease, Bioinformatics, Article, Endocrinology, Atrophy, nervous system, Internal medicine, medicine, Global developmental delay, Asparagine, Spastic quadriplegia, business, Intractable seizures
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المؤلفون: Russell Norris, Kimberly Sauls, Ronen Durst, David Peal, Katelynn Toomer, Maire Leyne, Michael E Talkowski, Harrison Brand, Maelle Perrocheau, Stacey N Lynch, Nabila Bouaia-Naji, Francesca N Delling, Lisa A Freed, Thierry Le Tourneau, Herve LeMarec, Xavier Estivill, Leticia Fernandez-Friera, Christian Dina, Jorge Solis, Daniel Trujillano, Kenneth D Irvine, Yaopan Mao, Stephan Ossowski, Any Wessels, Donald Menick, Harinath Kasiganesan, Ann-Marie Bromme, Katherine Williams, Jean-Jacques Schott, Albert A Hagege, Xavier Jeunemaitre, Roger R Markwald, David J Milan, Robert A Levine, Susan Slaugenhaupt
المصدر: Circulation. 130
مصطلحات موضوعية: Physiology (medical), Cardiology and Cardiovascular Medicine
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المؤلفون: Arndt Rolfs, Lejla Kovacevic, Viatcheslav Saviouk, Daniel Trujillano, Nahid Nahavandi, Efstathios B. Papachristos, Tetyana Zakharkina, Juliane Schneider, Julia Köster, Maximilian E. R. Weiss
المصدر: The Journal of molecular diagnostics : JMD. 17(2)
مصطلحات موضوعية: Adult, endocrine system diseases, Breast Neoplasms, Biology, DNA sequencing, Pathology and Forensic Medicine, symbols.namesake, medicine, Humans, Genetic Predisposition to Disease, skin and connective tissue diseases, Gene, Genetic testing, Genetics, Sanger sequencing, BRCA2 Protein, Ovarian Neoplasms, medicine.diagnostic_test, BRCA1 Protein, High-Throughput Nucleotide Sequencing, Ion semiconductor sequencing, Middle Aged, medicine.disease, female genital diseases and pregnancy complications, genomic DNA, symbols, Molecular Medicine, Female, Ovarian cancer, Personal genomics
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المؤلفون: Eva Hebert, Ikuo Masuho, Dusanka Savic-Pavicevic, Irina Hüning, Nickolas K. Skamangas, Sofia Steinrücke, Katja Lohmann, Daniel Trujillano, Valerija Dobricic, Ana Westenberger, Alexander Münchau, Gabriele Gillessen-Kaesbach, Christine Klein, Hauke Baumann, Dipak N. Patil, Kirill A. Martemyanov, Arndt Rolfs, Gabriela-Elena Oprea
المصدر: Human Molecular Genetics. :ddx018
مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Mutant, Mutation, Missense, Biology, Frameshift mutation, 03 medical and health sciences, Heterotrimeric G protein, Genetics, Humans, Missense mutation, Exome, Child, Molecular Biology, Gene, Genetics (clinical), Exome sequencing, Neurons, Receptors, Dopamine D1, GTP-Binding Protein beta Subunits, Gene Expression Regulation, Developmental, Infant, Articles, General Medicine, Heterotrimeric GTP-Binding Proteins, 3. Good health, 030104 developmental biology, Child, Preschool, Female, GNB1, Protein Binding
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المؤلفون: Elisabet Ars, Xavier Estivill, Gemma Bullich, Santiago Mendizábal, Daniel Trujillano, Ivan Vargas, Juan Alberto Piñero-Fernández, Jose Garcia-Solano, Roser Torra, José Ballarín, Gloria Fraga
المصدر: Nephrology Dialysis Transplantation. :gfv453
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Pathology, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, 030232 urology & nephrology, Compound heterozygosity, Nephropathy, 03 medical and health sciences, 0302 clinical medicine, Focal segmental glomerulosclerosis, Nephronophthisis, medicine, Humans, Child, Cystic kidney, Transplantation, Glomerulosclerosis, Focal Segmental, business.industry, Kidney Diseases, Cystic, medicine.disease, Pedigree, 030104 developmental biology, Nephrology, Case-Control Studies, Child, Preschool, Mutation, Mutation (genetic algorithm), Disease Progression, Female, business, Microtubule-Associated Proteins, Tubulointerstitial Disease, Nephrotic syndrome
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