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1Academic Journal
المؤلفون: Dídac Casas-Alba, Anna Fernández López, Esther Gean Molins, Patricia Suero Toledano, Antonio Martínez-Monseny
المصدر: Anales de Pediatría, Vol 89, Iss 1, Pp 60-61 (2018)
مصطلحات موضوعية: Pediatrics, RJ1-570
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Dídac Casas-Alba, Anna Fernández López, Esther Gean Molins, Patricia Suero Toledano, Antonio Martínez-Monseny
المصدر: Anales de Pediatría (English Edition), Vol 89, Iss 1, Pp 60-61 (2018)
مصطلحات موضوعية: Pediatrics, RJ1-570
وصف الملف: electronic resource
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3
المؤلفون: Ainhoa Pascual‐Alonso, Laura Blasco, Silvia Vidal, Esther Gean, Patricia Rubio, Mar O'Callaghan, Antonio F. Martínez‐Monseny, Alba Aina Castells, Clara Xiol, Vicenç Català, Nuria Brandi, Paola Pacheco, Carlota Ros, Miguel Campo, Encarna Guillén, Salva Ibañez, María J. Sánchez, Pablo Lapunzina, Julián Nevado, Fernando Santos, Elisabet Lloveras, Juan D. Ortigoza‐Escobar, María I. Tejada, Hiart Maortua, Francisco Martínez, Carmen Orellana, Mónica Roselló, María A. Mesas, María Obón, Alberto Plaja, Joaquín A. Fernández‐Ramos, Eduardo Tizzano, Rosario Marín, José L. Peña‐Segura, Soledad Alcántara, Judith Armstrong
المصدر: Clinical Genetics. 97
مصطلحات موضوعية: Genetics, Genetics (clinical)
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4Author response for 'Molecular characterisation of Spanish patients with MECP2 duplication syndrome'
المؤلفون: Eli Lloveras, Aina Alba Castells, José Luís Peña‐Segura, Maria Isabel Tejada, Soledad Alcántara, María Obón, Carmen Orellana, Hiart Maortua, María Aurora Mesas, Laura Blasco, Nuria Brandi, Silvia Vidal, Judith Armstrong, María José Puig Sánchez, Fernando Santos, Patricia Rubio, Julián Nevado, Esther Gean, Salva Ibañez, Vicenç Català, Joaquín A. Fernández-Ramos, Eduardo F. Tizzano, Mónica Roselló, Miguel Del Campo, Encarna Guillén, Francisco Martínez, Antonio Martinez-Monseny, Juan Darío Ortigoza-Escobar, Ainhoa Pascual-Alonso, Pablo Lapunzina, Mar O'Callaghan, Clara Xiol, Carlota Ros, Rosario Marín, Alberto Plaja, Paola Pacheco
مصطلحات موضوعية: Genetics, business.industry, MECP2 duplication syndrome, medicine, medicine.disease, business
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5
المؤلفون: Antonio Martinez-Monseny, Clara Xiol, María Aurora Mesas, Alberto Plaja, Carlota Ros, Judith Armstrong, Pablo Lapunzina, Soledad Alcántara, José Luís Peña‐Segura, Maria Sanchez, Vicenç Català, Mónica Roselló, Patricia Rubio, Alba-Aina Castells, Rosario Marín, Mar O'Callaghan, Eduardo F. Tizzano, Francisco Martínez, Carmen Orellana, Joaquín A. Fernández-Ramos, María Obón, Silvia Vidal, Salva Ibañez, Esther Gean, Encarna Guillén, Maria Isabel Tejada, Elisabet Lloveras, Paola Pacheco, Nuria Brandi, Laura Blasco, Fernando Santos, Ainhoa Pascual-Alonso, Miguel Del Campo, Juan Darío Ortigoza-Escobar, Hiart Maortua, Julián Nevado
المصدر: CLINICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, recurrent infections, IRAK1, Adolescent, Xq28-duplication, Methyl-CpG-Binding Protein 2, genotype-phenotype correlation, hypotonia, Developmental Disabilities, Genetic counseling, MECP2 duplication syndrome, 030105 genetics & heredity, Bioinformatics, Young Adult, 03 medical and health sciences, Neurodevelopmental disorder, Methyl-CpG-binding protein 2 (MECP2), Intellectual Disability, Gene duplication, Intellectual disability, Genetics, Humans, Medicine, Multiplex ligation-dependent probe amplification, Precision Medicine, Child, intellectual disability, Genetic Association Studies, Genetics (clinical), Chromosomes, Human, X, Comparative Genomic Hybridization, business.industry, Infant, medicine.disease, Hypotonia, Pedigree, Interleukin-1 Receptor-Associated Kinases, 030104 developmental biology, Child, Preschool, Mental Retardation, X-Linked, Muscle Hypotonia, Female, medicine.symptom, business, MECP2 duplication, Comparative genomic hybridization
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6
المؤلفون: E. Tarantino, Angela Sparago, Michele D'Urso, Vincenzo Mercadante, Tiziana Bardaro, Esther Gean Molins, Matilde Valeria Ursini, Geppino Falco
المساهمون: Bardaro, Tiziana, Falco, Geppino, Sparago, Angela, Mercadante, Vincenzo, Molins, Esther Gean, Tarantino, Enrico, Ursini, Matilde Valeria, D'Urso, Michele
المصدر: Human Mutation. 21:8-11
مصطلحات موضوعية: Genetic counseling, Pseudogene, IKBKG, DNA Mutational Analysis, Molecular Sequence Data, IKKγ, Protein Serine-Threonine Kinases, Biology, Polymerase Chain Reaction, X-inactivation, Exon, NEMO, Genetics, medicine, Humans, Incontinentia Pigmenti, Diagnostic Errors, Gene, Genetics (clinical), I-Kappa-B Kinase, NF-κB essential modulator, Incontinentia pigmenti, medicine.disease, I-kappa B Kinase, Pedigree, Molecular diagnosi, Molecular Diagnostic Techniques, IP, Female, Gene Deletion, Pseudogenes
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7
المؤلفون: Angela E. Lin, Nina Tolkoff-Rubin, Enrique Galán, Valeria Romanelli, Joaquín Fernández Toral, Matthew R. Fickie, Esther Gean, Pablo Lapunzina, Jennifer K. Gentile, Daniela Kroshinsky, Loreto Martorell
المصدر: American Journal of Medical Genetics Part A. 155:2105-2111
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Genotype, Scoliosis, Fibromuscular dysplasia, Craniofacial Abnormalities, Genetics, medicine, Humans, Craniofacial, Genetics (clinical), Sotos Syndrome, Learning Disabilities, Sotos syndrome, business.industry, Incidence (epidemiology), Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Histone-Lysine N-Methyltransferase, Middle Aged, medicine.disease, Phenotype, Carcinoma, Basal Cell, Overgrowth syndrome, Carcinoma, Squamous Cell, Histone Methyltransferases, Female, Haploinsufficiency, business, Kidney disease
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8
المؤلفون: Esther Gean, Victor Martinez-Glez, Ricardo Gracia-Bouthelier, Encarna Guillén, Loreto Martorell, Julián Nevado, Sixto García-Miñaur, Mario F. Fraga, Victoria Esteban Marfil, Pablo Lapunzina, Luis Morís Fernández, Heloisa Meneses, Valeria Romanelli
المصدر: European Journal of Human Genetics. 19:416-421
مصطلحات موضوعية: Epigenomics, Beckwith-Wiedemann Syndrome, Beckwith–Wiedemann syndrome, Chromosome Breakpoints, Biology, Article, Genomic Imprinting, Insulin-Like Growth Factor II, Genetics, Macroglossia, medicine, Humans, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Polydactyly, Mosaicism, Chromosomes, Human, Pair 11, Chromosome Mapping, Sequence Analysis, DNA, DNA Methylation, Uniparental Disomy, medicine.disease, Uniparental disomy, Phenotype, Overgrowth syndrome, medicine.symptom, Genomic imprinting, Visceromegaly, Microsatellite Repeats
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9
المؤلفون: Angeles M. Sancho, Francisco Jose Parri, Elena Muñoz, Lucas Krauel, Morales L, Esther Gean
المصدر: Journal of Oral and Maxillofacial Surgery. 66:589-592
مصطلحات موضوعية: Male, business.industry, Cleft Lip, Oral Surgical Procedures, Lower lip, Dentistry, Syndrome, Anatomy, medicine.disease, Lip, Otorhinolaryngology, medicine, Humans, Female, Surgery, Van der Woude syndrome, Oral Surgery, business, High penetrance
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10
المؤلفون: Daniel, Natera-De Benito, Pilar, Poo, Esther, Gean, Asunción, Vicente-Villa, Angels, García-Cazorla, M Carmen, Fons-Estupiña
المصدر: Revista de neurologia. 59(4)
مصطلحات موضوعية: Heart Defects, Congenital, Hypopigmentation, Abortion, Habitual, Fetal Growth Retardation, Mosaicism, Infant, Newborn, Abnormal Karyotype, Fibroblasts, Triploidy, Phenotype, Epilepsy, Absence, Face, Intellectual Disability, Obesity, Abdominal, Infant, Small for Gestational Age, Humans, Abnormalities, Multiple, Female, Lymphocytes, Syndactyly, Retrospective Studies
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11
المؤلفون: Ana Roche, Jaume Mora, Belen Perez, Andreu Parareda, Joan Prat, Maria del Mar Perez, Esther Gean, Jaume Català, Ofelia Cruz, Mar O'Callaghan, Carmen de Torres
المصدر: Pediatric Blood & Cancer. 54:480-482
مصطلحات موضوعية: Chemotherapy, Pathology, medicine.medical_specialty, business.industry, Retinoblastoma, Systemic chemotherapy, medicine.medical_treatment, Intra arterial chemotherapy, Chromosome, Cryotherapy, Hematology, medicine.disease, eye diseases, Oncology, Pediatrics, Perinatology and Child Health, medicine, In patient, sense organs, business, Development delay
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12
المؤلفون: María Valencia, Edel Reytor, María Pacheco, Esther Gean, Victor L. Ruiz-Perez, Margarita Fernández, José A. Caparrós-Martín, Antonio Perez-Aytes, Pablo Lapunzina, Judith A. Goodship, Heiko Peters
المساهمون: Ministerio de Ciencia e Innovación (España), European Commission, Fundación Ramón Areces
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: Morphogenesis, Kruppel-Like Transcription Factors, Nerve Tissue Proteins, Biology, Receptors, G-Protein-Coupled, Mice, Chondrocytes, Zinc Finger Protein Gli3, GLI3, Genetics, Gene silencing, Animals, Hedgehog Proteins, Cilia, Molecular Biology, Hedgehog, Genetics (clinical), Cilium, Membrane Proteins, General Medicine, Smoothened Receptor, Hedgehog signaling pathway, Mice, Mutant Strains, Cell biology, Repressor Proteins, Protein Transport, Intercellular Signaling Peptides and Proteins, Signal transduction
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13
المؤلفون: Esther Gean, Loreto Martorell, Pablo Lapunzina, María A. Mori, Valeria Romanelli, Mabel Segovia, Ricardo Gracia, Antonio González-Meneses, Victor Martinez-Glez, Juan Carlos López-Gutiérrez
المصدر: American journal of medical genetics. Part A. (12)
مصطلحات موضوعية: Genetic Markers, Male, medicine.medical_specialty, Capillary malformation, Adolescent, DNA Copy Number Variations, Genotype, Port-Wine Stain, Skin Diseases, Vascular, Neuroimaging, Gene Frequency, Genetics, Medicine, Humans, Abnormalities, Multiple, Copy-number variation, Telangiectasis, Child, Genetics (clinical), Livedo Reticularis, business.industry, Macrocephaly, Syndrome, medicine.disease, Megalencephaly, Capillaries, Macrocephaly-capillary malformation, Overgrowth syndrome, Child, Preschool, Reticular connective tissue, Etiology, Radiology, medicine.symptom, business
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14
المؤلفون: Esther Gean, Vicenç Català, Rudolf Happle, M. Antonia González-Enseñat, Asunción Vicente, P Póo, Carme Fuster, M. Mar Pérez-Iribarne
المصدر: Archives of Dermatology. 145
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Clinodactyly, Adolescent, Skin Pigmentation, Trisomy, Dermatology, Diagnosis, Differential, medicine, Humans, Trichomegaly, Syndactyly, Child, In Situ Hybridization, Fluorescence, Hypopigmentation, Chromosomes, Human, Pair 13, Mosaicism, business.industry, General Medicine, medicine.disease, Phenotype, Tetrasomy, Phylloid hypomelanosis, Female, medicine.symptom, business, Patau's syndrome
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15
المؤلفون: P Póo, Angels García-Cazorla, Jaume Campistol, María Dolores García-Bargo, Miguel Baquero, Esther Gean, A Sans, Montse Arellano
المصدر: Developmental medicine and child neurology. 46(3)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Developmental Disabilities, Leukomalacia, Periventricular, Physiology, Periventricular white matter, White matter, Developmental Neuroscience, medicine, Image Processing, Computer-Assisted, Dementia, Humans, In patient, Abnormalities, Multiple, Child, Chromosome Aberrations, White matter alterations, medicine.diagnostic_test, Dementia, Vascular, Infant, Newborn, Brain, Infant, Karyotype, Magnetic resonance imaging, Syndrome, medicine.disease, Image Enhancement, Magnetic Resonance Imaging, medicine.anatomical_structure, Child, Preschool, Karyotyping, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Trisomy, Psychology
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16Author response for 'Molecular characterisation of Spanish patients with MECP2 duplication syndrome'
المؤلفون: Ainhoa Pascual‐Alonso, Laura Blasco, Silvia Vidal, Esther Gean, Patricia Rubio, Mar O'Callaghan, Antonio Federico Martínez‐Monseny, Aina Alba Castells, Clara Xiol, Vicenç Català, Nuria Brandi, Paola Pacheco, Carlota Ros, Miguel Campo, Encarna Guillén, Salva Ibañez, María José Sánchez, Pablo Lapunzina, Julián Nevado, Fernando Santos, Eli Lloveras, Juan Darío Ortigoza‐Escobar, María Isabel Tejada, Hiart Maortua, Francisco Martínez, Carmen Orellana, Mónica Roselló, María Aurora Mesas, María Obón, Alberto Plaja, Joaquín Alejandro Fernández‐Ramos, Eduardo Tizzano, Rosario Marín, José Luís Peña‐Segura, Soledad Alcántara, Judith Armstrong
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17
المؤلفون: Carmen Ayuso, Jaume Antich, Miguel Carballo, Carlos Reig, Esther Gean, Blanca Garcia-Sandoval, Carmen Ramos
المصدر: Human genetics. 94(3)
مصطلحات موضوعية: Male, Threonine, Rhodopsin, genetic structures, Adolescent, DNA Mutational Analysis, medicine.disease_cause, Polymerase Chain Reaction, Exon, Methionine, Retinitis pigmentosa, Genetics, medicine, Humans, Point Mutation, Genetics (clinical), Aged, Gel electrophoresis, Electrophoresis, Agar Gel, Mutation, biology, Genetic heterogeneity, Point mutation, Exons, Middle Aged, medicine.disease, Phenotype, Molecular biology, eye diseases, Pedigree, biology.protein, Female, sense organs, Retinitis Pigmentosa
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18Author response for 'Molecular characterisation of Spanish patients with MECP2 duplication syndrome'
المؤلفون: Ainhoa Pascual‐Alonso, Laura Blasco, Silvia Vidal, Esther Gean, Patricia Rubio, Mar O'Callaghan, Antonio Federico Martínez‐Monseny, Aina Alba Castells, Clara Xiol, Vicenç Català, Nuria Brandi, Paola Pacheco, Carlota Ros, Miguel Campo, Encarna Guillén, Salva Ibañez, María José Sánchez, Pablo Lapunzina, Julián Nevado, Fernando Santos, Eli Lloveras, Juan Darío Ortigoza‐Escobar, María Isabel Tejada, Hiart Maortua, Francisco Martínez, Carmen Orellana, Mónica Roselló, María Aurora Mesas, María Obón, Alberto Plaja, Joaquín Alejandro Fernández‐Ramos, Eduardo Tizzano, Rosario Marín, José Luís Peña‐Segura, Soledad Alcántara, Judith Armstrong
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19
المؤلفون: Lidia Martínez Sánchez, Amalia Arce, Josep Caritg Bosch, Jaume Campistol Plana, Carlos Pavía Sesma, Esther Gean Molins
المصدر: Revista de Neurología. 35:439
مصطلحات موضوعية: Neurology (clinical), General Medicine
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20
المؤلفون: Judith Armstrong, Vicenç Català, Elena Aibar, Esther Gean, P Póo, Mercè Pineda, Eugenia Monros
المصدر: Annals of Neurology. 50:692-692
مصطلحات موضوعية: Genetics, Neurology, Somatic mosaicism, business.industry, Mutation (genetic algorithm), medicine, Rett syndrome, Neurology (clinical), medicine.disease, business, MECP2
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