-
1
المؤلفون: Howaida Mohd, Karen El-Akouri, Reem Al Sulaiman, Nader Al-Dewik, Benjamin D. Solomon, Mariam Al-Mulla, Sara Musa, Mariam Almureikhi, Noora Shahbeck, Laila Mahmoud, Ajayeb Al-Nabet Al-Marri, Jane Juusola, Rehab Ali, Gabriele Richard, Fatma Al-Mesaifri, Fowzan S. Alkuraya, Tawfeg Ben-Omran
المصدر: American Journal of Medical Genetics. Part a
مصطلحات موضوعية: Adult, Male, Proband, Pediatrics, medicine.medical_specialty, Adolescent, Genotype, DNA Mutational Analysis, Arab, Consanguinity, Middle East, Young Adult, symbols.namesake, Mendelian diseases, Exome Sequencing, Genetics, Humans, Medicine, Family, Genetic Predisposition to Disease, Pathology, Molecular, Medical diagnosis, Family history, Child, Qatar, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, business.industry, Genetic Diseases, Inborn, Infant, Newborn, Infant, clinical exome sequencing, Original Articles, Phenotype, Child, Preschool, Mutation, Cohort, Mendelian inheritance, symbols, Etiology, Original Article, Female, business
-
2
المؤلفون: Firdous Abdulwahab, Wafa Eyaid, Hessa S. Alsaif, Majid Alfadhel, Hisham Alkuraya, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Abdullah Hamed Alfalah, Abdullah Alfaifi, Sateesh Maddirevula, Mariam Almureikhi, Hisham Arabi
المصدر: American journal of medical genetics. Part AREFERENCES. 182(12)
مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Abnormal eye movements, Developmental Disabilities, 030105 genetics & heredity, Prolyl Hydroxylases, 03 medical and health sciences, Epilepsy, Atrophy, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Expressivity (genetics), Eye Abnormalities, Child, Genetics (clinical), business.industry, Dysautonomia, Hypoventilation, Syndrome, medicine.disease, Hypotonia, Pedigree, 030104 developmental biology, Phenotype, Child, Preschool, Mutation, Muscle Hypotonia, Female, medicine.symptom, business
-
3
المؤلفون: Ghada M H Abdel-Salam, Firdous Abdulwahab, Mais Hashem, Neama Meriki, Fahad A. Bashiri, Shams Anazi, Sateesh Maddirevula, Fatema Alzahrani, Mariam Almureikhi, Premala Muthukumarasamy, Niema Ibrahim, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Rifhan Azwani Mazlan, Ranad Shaheen, Meow-Keong Thong
المصدر: Genetics in Medicine. 20:64-68
مصطلحات موضوعية: 0301 basic medicine, Genotype, Population, Saudi Arabia, Genomics, Genome-wide association study, Biology, Genome, 03 medical and health sciences, Loss of Function Mutation, Humans, Genetic Predisposition to Disease, Allele, education, Exome, Alleles, Genetic Association Studies, Genetics (clinical), Genetic association, Genetics, education.field_of_study, Genome, Human, Facies, Genetics, Population, Phenotype, 030104 developmental biology, Human genome, Genome-Wide Association Study
-
4
المؤلفون: Andreas Gerondopoulos, Sara A. Wirth, Ercan Demir, Tawfeg Ben-Omran, Maha S. Zaki, Joseph G. Gleeson, Susanne Roosing, Isaac Marin-Valencia, Francis A. Barr, Mahmoud Y. Issa, Mariam Almureikhi, Anne Gregor, Bart Appelhof, Damir Musaev, Valentina Stanley, Alicia Guemez-Gamboa, Frank Baas, Basak Rosti
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 101(3), 441-450
American Journal of Human Genetics, 101, 3, pp. 441-450
American Journal of Human Genetics, 101, 441-450
American journal of human genetics, vol 101, iss 3مصطلحات موضوعية: Male, 0301 basic medicine, Cerebellum, Microcephaly, Medical and Health Sciences, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 0302 clinical medicine, microcephaly, Child, Zebrafish, Genetics (clinical), Genetics & Heredity, Genetics, TBC1D23, GTPase-Activating Proteins, Homozygote, Biological Sciences, Pedigree, Phenotype, medicine.anatomical_structure, intellectual disability, Child, Preschool, Female, medicine.symptom, Ataxia, Adolescent, Pontocerebellar hypoplasia, Hindbrain, Biology, 03 medical and health sciences, Clinical Research, Cerebellar Diseases, Report, medicine, Animals, Humans, Preschool, Gene, pontocerebellar hypoplasia, ataxia, Neurosciences, medicine.disease, biology.organism_classification, Pons, 030104 developmental biology, Hela Cells, Mutation, 030217 neurology & neurosurgery, HeLa Cells
وصف الملف: application/pdf
-
5
المؤلفون: Christopher A. Walsh, Mariam Almureikhi, A. James Barkovich, Nada Alaaraj, Tawfeg Ben-Omran, Shenela Lakhani, Jennifer N. Partlow, Ryan N. Doan, Muna Al Saffar, Mahmoud F. Elsaid
المصدر: European Journal of Medical Genetics. 60:245-249
مصطلحات موضوعية: Male, musculoskeletal diseases, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Cell Adhesion Molecules, Neuronal, Consanguinity, Article, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Frameshift Mutation, Genetics (clinical), Arthrogryposis, Cerebral atrophy, Arthrogryposis multiplex congenita, Muscular hypotonia, business.industry, Infant, Newborn, Brain, General Medicine, medicine.disease, Pedigree, 030104 developmental biology, Female, Cerebellar atrophy, medicine.symptom, Reduced tendon reflexes, business, 030217 neurology & neurosurgery
-
6
المؤلفون: Magi Martin, Nawal Makhseed, Amal Alhashem, Peter Bauer, Nihal M. Al Menabawy, Tawfeg Ben-Omran, Laila Selim, Laura Demuth, Marius-Ionuț Iurașcu, Christian Beetz, Zafer Yüksel, Claudia Cozma, Mariam Almureikhi, Iman G Mahmoud, Arndt Rolfs, Marina Hovakimyan
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, Genotype-phenotype correlation, Adolescent, Receptors, Peptide, lcsh:Medicine, 030105 genetics & heredity, Hyaline fibromatosis syndrome, Cohort Studies, 03 medical and health sciences, Exon, Hyalinosis, Systemic, Young Adult, 0302 clinical medicine, HYALINE FIBROMATOSIS SYNDROME, medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), Hyaline, Genetic Association Studies, Farber disease, integumentary system, business.industry, Research, lcsh:R, Infant, General Medicine, Biomarker, medicine.disease, Phenotype, Human genetics, ANTXR2, Farber Lipogranulomatosis, Child, Preschool, Cohort, Mutation, Biomarker (medicine), Female, business, 030217 neurology & neurosurgery, Biomarkers
-
7
المؤلفون: Ghassan Abdoh, Tawfeg Ben-Omran, Noora Shahbeck, Reem Al Saadi, Henk J. Blom, Laila Mahmoud, Karen El-Akouri, Mariam Al-Mulla, Gheyath K. Nasrallah, Beat Thöny, Warren D. Kruger, Sara Musa, Fatma Al-Mesaifri, Alaa Ali, Rehab Ali, Yassmin Mahmoud, Johannes Häberle, Mariam Almureikhi, Nader Al-Dewik, Muthanna Samara, Hilal Al Rifai
المساهمون: University of Zurich, Ben-Omran, Tawfeg
المصدر: Journal of inherited metabolic diseaseREFERENCES. 42(5)
مصطلحات موضوعية: Male, Quality of life, Child, Genetics (clinical), 0303 health sciences, education.field_of_study, Incidence (epidemiology), 030305 genetics & heredity, Natural history, Child, Preschool, Classical homocystinuria, Regression Analysis, Female, Homocystinuria, medicine.symptom, Adult, medicine.medical_specialty, 2716 Genetics (clinical), Adolescent, Population, Cystathionine beta-Synthase, alliedhealth, 610 Medicine & health, Asymptomatic, 03 medical and health sciences, Young Adult, consanguinity, Neonatal Screening, 1311 Genetics, Internal medicine, Genetics, medicine, Humans, education, Qatar, 030304 developmental biology, Newborn screening, business.industry, Infant, Newborn, Infant, medicine.disease, Early Diagnosis, Inborn error of metabolism, 10036 Medical Clinic, Mutation, founder mutation p.R336C CBS gene, business
وصف الملف: Al-Dewik_et_al-2019-Journal_of_Inherited_Metabolic_Disease.pdf - application/pdf; application/pdf
-
8
المؤلفون: Mariam Almureikhi, Amna Othman, Ghassan Abdoh, Benjamin D. Solomon, Rehab Ali, Fatma Al-Mesaifri, Mariam Al-Mulla, Sara Musa, Noora Shahbeck, Tawfeg Ben-Omran, Karen El-Akouri, Reem Al Sulaiman, Nader Al-Dewik, Laila Mahmoud
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Genetics, Medical, MEDLINE, Genomics, Computational biology, Genetics and Genomic Medicine around the World, 03 medical and health sciences, 030104 developmental biology, Genetics, Medicine, Medical genetics, Genomic medicine, Humans, business, Molecular Biology, Qatar, Genetics (clinical)
-
9
المؤلفون: Seham Alameer, Mariam Almureikhi, Zuhair Rahbeeni, Mohamed Abouelhoda, Ameera Balobaid, Menasria Samira, Majid Alfadhel, Dalal K. Bubshait, Bashair Hamza Alabbasi, Mohammed Zain Seidahmed, Aziza Chedrawi, Dorota Monies, Hessa S. Alsaif, Hanan E. Shamseldin, Nisha Patel, Brahim Tabarki, Niema Ibrahim, Mohammad M. Al-Qattan, Suad Al Yamani, Hamad Al-Zaidan, Amal Y. Kentab, Iram Alluhaydan, Husam R. Kayyali, Maha Alotaibi, Abdulla Al Jasser, Maha Faden, Saeed Al Tala, Ewa Goljan, Firdous Abdulwahab, Brian F. Meyer, Suzan Alhomaidi, Ibrahim Almogarri, Mais Hashem, Wesam Kurdi, Heba Y. El Khashab, Sateesh Maddirevula, Amal Alhashem, Saad AlShahwan, Ranad Shaheen, Alya Qari, Mustafa A. Salih, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Fatema Alzahrani, Mohammed Al-Owain, Mohammad A. Al Muhaizea, Hana Akleh, Omar Dabbagh
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, medicine.medical_specialty, Heredity, Genotype, Genomics, 030105 genetics & heredity, Biology, Article, 03 medical and health sciences, symbols.namesake, Diagnosis, medicine, Humans, Disease, Genetic Testing, Allele, Child, Exome, Genetics (clinical), Diagnostic Techniques and Procedures, Genetics, variant interpretation, Homozygote, CENPF, Infant, Newborn, Genetic Variation, High-Throughput Nucleotide Sequencing, Infant, Sequence Analysis, DNA, Phenotype, ACMG guidelines, 030104 developmental biology, Biological Variation, Population, Child, Preschool, Mutation, Mendelian inheritance, symbols, biology.protein, Medical genetics, Female, candidate genes
-
10
المؤلفون: Tawfeg Ben-Omran, Nawal Makhseed, Mariam Almureikhi, Kimberli J. Kamer, Fatma Al Mesaifri, Sara Musa, Noora Shahbeck, Rehab Ali, Wafaa Ali AlShehhi, Zakkiriah Mohamed, Jane Juusola, Vamsi K. Mootha, Wafaa Eyaid
المصدر: JIMD Reports ISBN: 9783662586136
مصطلحات موضوعية: 0301 basic medicine, Genetics, biology, Mitochondrial disease, Muscle weakness, Mitochondrion, medicine.disease, Compound heterozygosity, Article, Minor allele frequency, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Failure to thrive, Mutation (genetic algorithm), medicine, biology.protein, Creatine kinase, medicine.symptom, 030217 neurology & neurosurgery
-
11
المؤلفون: Mariam Al-Mulla, Laila Mahmoud, Fowzan S. Alkuraya, Tawfeg Ben-Omran, Shenela Lakhani, Tarunashree Yavarna, Zafar Nawaz, Fatma Al-Mesaifri, Noora Shahbeck, Patrik Vitazka, Nader Al-Dewik, Rehab Ali, Mariam Almureikhi
المصدر: Human genetics. 134(9)
مصطلحات موضوعية: Proband, Adult, Male, Microcephaly, Pediatrics, medicine.medical_specialty, Adolescent, Developmental Disabilities, Population, Consanguinity, Biology, Young Adult, Intellectual Disability, Genetics, medicine, Humans, Exome, Global developmental delay, Genetic Testing, education, Child, Qatar, Genetics (clinical), Exome sequencing, Genetic testing, education.field_of_study, Epilepsy, medicine.diagnostic_test, Infant, Genomics, Sequence Analysis, DNA, Middle Aged, medicine.disease, Arabs, Phenotype, Child, Preschool, Female
-
12
المؤلفون: Murray Feingold, Yue Si, Ophir D. Klein, Kyle Retterer, Michael C. Kruer, Mariam Almureikhi, Kirk Simmons, Federica Gibellini, Rong Mao, Elizabeth A. Sellars, Hazel Perry, Jessica Douglas, Quinn Stein, Tawfeg Ben-Omran, Anne Slavotinek, Dianalee McKnight, Jennifer L. Fish, Yuri A. Zarate
المصدر: American journal of medical genetics. Part A. (5)
مصطلحات موضوعية: Adult, Male, Craniofacial abnormality, Nonsense mutation, Biology, Bioinformatics, Frameshift mutation, Craniofacial Abnormalities, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Exome, Language Development Disorders, Child, Frameshift Mutation, Genetics (clinical), Exome sequencing, Point mutation, High-Throughput Nucleotide Sequencing, Matrix Attachment Region Binding Proteins, medicine.disease, Phenotype, Cleft Palate, Codon, Nonsense, Child, Preschool, Chromosomes, Human, Pair 2, Female, Transcription Factors
-
13
المؤلفون: Noriko Miyake, Sheila Unger, Shiro Ikegawa, Mariam Almureikhi, Andrea Superti-Furga, Naomichi Matsumoto, Tawfeg Ben-Omran, Shenela Lakhani, Atsushi Takahashi, Rehab Ali
المصدر: American journal of medical genetics. Part A. (9)
مصطلحات موضوعية: Adult, Male, Adolescent, Radiography, Pelvis, Epilepsy, Pregnancy, Genetics, Medicine, Humans, Knee, Lumbar kyphosis, Dysmorphic facial features, Clinical phenotype, Child, Genetics (clinical), business.industry, Brachydactyly, Infant, Newborn, Infant, Anatomy, medicine.disease, Disease gene identification, Hand, Spine, Musculoskeletal Abnormalities, Pedigree, Haplotypes, Dysplasia, Child, Preschool, Female, business
-
14
المؤلفون: Usha Kini, Sheela Nampoothiri, Marjolijn C.J. Jongmans, Denise Horn, Gijs W. E. Santen, Emmelien Aten, M. S Mancini Grazia, Ruth Newbury-Ecob, Elizabeth Sweeney, Merel W. Boogaard, Helen Kingston, Amanda L. Collins, Tjitske Kleefstra, Christian A.C. Van der Lans, Albertien M. van Eerde, Alice Gardham, Shane McKee, Miranda Splitt, Debbie Shears, Michael J. Parker, Victoria Harrison, Natalie Canham, Saskia M. Maas, Marjolein Kriek, Martijn H. Breuning, Nancy Kramer, Leigh Anne Flore, Gozde Yesil, Luis A. Pérez-Jurado, John M. Graham, Katherine Berry, Louise Brueton, Krystyna H. Chrzanowska, I. Karen Temple, Odile Boute, M. J Ellen Vollebregt, Bert B.A. de Vries, Jill Clayton-Smith, Beyhan Tüysüz, Patrícia Maciel, Johan T. den Dunnen, Caroline Pottinger, Ronelle Snowdowne, Robert Smigiel, Mafalda Barbosa, Isabelle Maystadt, May Tassabehji, Alan Fryer, Martine J. van Belzen, Louise C. Wilson, Margherita Silengo, Helen Stewart, Mariam Almureikhi, Anneke T. Vulto-van Silfhout, Ineke van der Burgt, Seema Kapoor, Catherine Vincent-Delorme, Caroline Rooryck, Tawfeg Ben-Omran, Michiel J R van der Wielen, Nicolette S. den Hollander, John Dean, Stefania Bigoni, Jeff M. Milunsky, Bregje W.M. van Bon, Sarah M. Nikkel, Arie van Haeringen, Gabriela Soares, Ankur Singh, Raoul C.M. Hennekam, Sarina G. Kant, Alexander Hoischen, Margot M L Linssen, Stephen P. Robertson, Anwar Baban, Dragana Josifova, Krajewska-Walasek Malgorzata Krajewska-Walasek, Teresa De Toni, Kate Chandler, Ivonne J H M van Minderhout, Linda Vijfhuizen
المساهمون: Immunology, Universidade do Minho, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics, Paediatrics, Paediatric Genetics
المصدر: Human Mutation, 34, 11, pp. 1519-28
Human Mutation, 34(11), 1519-1528. Wiley-Liss Inc.
Human Mutation, 34(11), 1519-1528
Human mutation, 34(11), 1519-1528. Wiley-Liss Inc.
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Human Mutation, 34, 1519-28مصطلحات موضوعية: ARID1A, Chromosomal Proteins, Non-Histone, Coffin-Siris, Medicina Básica [Ciências Médicas], SMARCB1, Bioinformatics, Germline, NBS, SMARCA4, Micrognathism, Gene Order, SMARCA2, Exome, Genetics (clinical), Genetics, Mosaicism, Nuclear Proteins, Exons, SMARCB1 Protein, Phenotype, SMARCE1, genotype-phenotype, DNA-Binding Proteins, SWI/SNF, ARID1B, BAF, CSS, Nicolaides-Baraitser, mosaicism, Ciências Médicas::Medicina Básica, Hand Deformities, Congenital, SNF, Biology, Genotype-phenotype, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Intellectual Disability, medicine, Humans, SWI, Abnormalities, Multiple, Coffin–Siris syndrome, Genetic Association Studies, DNA Helicases, Facies, medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Face, Multiprotein Complexes, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Neck, Transcription Factors
وصف الملف: application/pdf
-
15
المؤلفون: Shenela Lakhani, Noora Shahbeck, Zafar Nawaz, Tawfeg Ben-Omran, Mariam Almureikhi, Rehab Ali
المصدر: Qatar Foundation Annual Research Forum Volume 2012 Issue 1.
مصطلحات موضوعية: Genetics, education.field_of_study, High prevalence, Endogamy, Population, Consanguinity, Biology, Genetic Condition, education, Exome, Inbreeding, Founder effect
-
16
المؤلفون: Tawfeg Ben-Omran, Mariam Almureikhi, Fatima Al-Musaifri, Ahmad S. Teebi, Rehab Ali, Venkatraman Bhat
المصدر: American journal of medical genetics. Part A. (12)
مصطلحات موضوعية: Male, Nasal bridge, Genes, Recessive, Consanguinity, Biology, Blepharophimosis, Arachnodactyly, Camptodactyly, Genetic Heterogeneity, Genetics, medicine, Humans, Abnormalities, Multiple, Family, Child, Qatar, Genetics (clinical), Comparative Genomic Hybridization, Genetic heterogeneity, Anatomy, Van den Ende-Gupta syndrome, DNA, Syndrome, medicine.disease, Microarray Analysis, Hypoplasia, Lip, Chromosome Banding, Radiography, Phenotype, Child, Preschool, Female, medicine.symptom, Hand Deformities, Congenital
-
17
المؤلفون: Mariam Almureikhi, Jillian M. Felie, Muna Al-Saffar, Ahmad S. Teebi, Rehab Ali, Christopher A. Walsh, Seham Alameer, Tawfeg Ben-Omran
المصدر: American journal of medical genetics. Part A. (11)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Hearing loss, Consanguinity, Polymorphism, Single Nucleotide, Article, Diabetes mellitus genetics, Genetic Heterogeneity, Young Adult, Rare Diseases, Extrapyramidal symptoms, Basal Ganglia Diseases, Intellectual Disability, Genetics, medicine, Diabetes Mellitus, Humans, Genetic Testing, Child, Basal ganglia disease, Qatar, Genetics (clinical), Genetic testing, medicine.diagnostic_test, Genetic heterogeneity, business.industry, Hypogonadism, Nuclear Proteins, Ubiquitin-Protein Ligase Complexes, Alopecia, Arrhythmias, Cardiac, Woodhouse–Sakati syndrome, Middle Aged, medicine.disease, Pedigree, Phenotype, Chromosomes, Human, Pair 2, Mutation, cardiovascular system, Female, medicine.symptom, business, circulatory and respiratory physiology
-
18
المؤلفون: Shelley J. Kennedy, Mariam Almureikhi, Mariam Al-Ali, Syed H.E. Zaidi, Lap-Chee Tsui, Muhammad Faiyaz-Ul-Haque, Ahmad S. Teebi, G Al-thani
المصدر: American journal of medical genetics. Part A. (1)
مصطلحات موضوعية: Adult, Genetic Markers, Male, Mutation, Missense, Biology, medicine.disease_cause, Polymerase Chain Reaction, Bone and Bones, Exon, medicine, Coding region, Missense mutation, Humans, B4GALT7, Allele, Gene, Genetics (clinical), Genetics, Mutation, Infant, DNA, medicine.disease, Galactosyltransferases, Pedigree, Phenotype, Ehlers–Danlos syndrome, Face, Ehlers-Danlos Syndrome, Female