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المؤلفون: Fatima Ali-Rahmani, Jeanette C. Ramer, Cara Lynne Schengrund
المصدر: Neurochemical Research. 37:1201-1207
مصطلحات موضوعية: Male, medicine.medical_specialty, Central nervous system, G(M1) Ganglioside, Biology, Blood–brain barrier, Biochemistry, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Membrane Microdomains, Internal medicine, Membrane fluidity, medicine, Humans, Autistic Disorder, Child, Lipid raft, Ganglioside, Cholesterol, Erythrocyte Membrane, General Medicine, medicine.disease, Red blood cell, Endocrinology, medicine.anatomical_structure, chemistry, Child, Preschool, Immunology, Autism, Female, lipids (amino acids, peptides, and proteins)
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المؤلفون: Roger L. Ladda, Jeanette C. Ramer, Philip N. Mowrey
المصدر: Clinical Genetics. 39:442-450
مصطلحات موضوعية: Chromosome Aberrations, Chromosome 7 (human), Genetics, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Cytogenetics, Intraspinal cyst, Chromosome Disorders, macromolecular substances, Biology, Pedigree, Intellectual Disability, Multigene Family, Chromosome Inversion, Gene duplication, dup, medicine, Humans, Female, Chromosome Deletion, Child, Chromosomes, Human, Pair 7, Genetics (clinical), Chromosomal inversion
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3
المؤلفون: Sara Osimani, Andrew E. Fry, Koenraad Devriendt, Débora Romeo Bertola, Marjan M. Nezarati, Han G. Brunner, Grazia M.S. Mancini, Jorge L. Juncos, Pirayeh Eftekhari, Nataliya Di Donato, Marjolijn C.J. Jongmans, Laurence Faivre, Gilles Morin, Małgorzata J.M. Nowaczyk, Didier Lacombe, Zeichi-Seide Roseli, Conny M. A. van Ravenswaaij, Daniela Melis, Julien Masliah-Planchon, William B. Dobyns, Alexander Hoischen, Hatice Koçak Eker, Marlies Kempers, Andreas Rump, Vera Uliana, Victoria Mok Siu, Fabienne Giuliano, Nicole Philip, Beate Albrecht, Omar A Abdul-Raman, Alain Verloes, Mirjam Klaus, Angela E. Lin, Massimiliano Rossi, Albert David, Bregje W.M. van Bon, Jeanette C. Ramer, Ludivine Templin, Séverine Drunat, Yves Sznajer, Vincent Procaccio, Jean-Baptiste Rivière, Mary Ella M Pierpont, Francesca Faravelli, Judith Allanson, Leina Guion Almeida, Daniela T. Pilz, Cristina Rusu, Nicolas Chassaing, Charles Marques Lourenço, Bruce H. Wainer, Valérie Drouin-Garraud
المساهمون: Hôpital Robert Debré, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Universitätsklinikum Carl Gustav Carus, Université Paris Diderot - Paris 7 (UPD7), Radboud University Medical Centre [Nijmegen, The Netherlands], University of Mississippi Medical Center (UMMC), Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), Children's Hospital of Eastern Ontario [Ottawa, Canada], Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Centre hospitalier universitaire de Nantes (CHU Nantes), University Hospital Gasthuisberg, Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Rouen, Normandie Université (NU), Ospedale Galliera, CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Universitaire de Nice (CHU Nice), University of São Paulo (USP), Emory University School of Medicine, Emory University [Atlanta, GA], CHU Bordeaux [Bordeaux], Massachusetts General Hospital [Boston], Erasmus University Medical Center [Rotterdam] (Erasmus MC), Università degli studi di Napoli Federico II, University of Western Ontario (UWO), CHU Amiens-Picardie, McMaster University [Hamilton, Ontario], Pennsylvania State University (Penn State), Penn State System, Hôpital de la Timone [CHU - APHM] (TIMONE), University of Minnesota [MN, USA], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Cliniques Universitaires Saint-Luc [Bruxelles], University Hospital Groningen, University Hospital of Wales [Cardiff, UK], Seattle Children’s Hospital, Clinical Genetics, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, Ethical, Legal, Social Issues in Genetics (ELSI), Clinical Cognitive Neuropsychiatry Research Program (CCNP)
المصدر: European Journal of Human Genetics, 23(3), 292. Nature Publishing Group
Eur J Hum Genet
Eur J Hum Genet, 2014, 23, pp.292-301. ⟨10.1038/ejhg.2014.95⟩
European Journal of Human Genetics, 23(3), 292-301. Nature Publishing Group
European Journal of Human Genetics, 23, 3, pp. 292-301
European Journal of Human Genetics, 23, 292-301
European Journal of Human Genetics, Vol. 23, no.3, p. 292-301 (2014)
Paediatrics Publicationsمصطلحات موضوعية: Male, Microcephaly, Pathology, Craniofacial abnormality, [SDV]Life Sciences [q-bio], Medizin, GYRAL MALFORMATIONS, Craniofacial Abnormalities, FUNCTIONAL DIVERSITY, 0302 clinical medicine, Ptosis, Gene Order, Genetics(clinical), Hypertelorism, Non-U.S. Gov't, Child, Genetics (clinical), Arthrogryposis, Dystonia, 0303 health sciences, Research Support, Non-U.S. Gov't, Anatomy, 3. Good health, Phenotype, Child, Preschool, Female, medicine.symptom, Abnormalities, Multiple, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, APPARENTLY UNDESCRIBED SYNDROME, Adolescent, Lissencephaly, Biology, Research Support, Article, 03 medical and health sciences, Young Adult, SDG 3 - Good Health and Well-being, medicine, Genetics, Journal Article, Humans, Abnormalities, Multiple, Preschool, 030304 developmental biology, SHALLOW ORBITS, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], GAMMA-ACTIN, Pachygyria, Facies, medicine.disease, IRIS COLOBOMA, Actins, BETA-ACTIN, Amino Acid Substitution, Genetic Loci, Mutation, FACIAL SYNDROME, 030217 neurology & neurosurgery, MENTAL-RETARDATION, GROWTH-RETARDATION
وصف الملف: image/pdf; application/pdf
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المصدر: American Journal of Medical Genetics. 47:550-555
مصطلحات موضوعية: Male, Ectodermal dysplasia, Pathology, medicine.medical_specialty, Contracture, X Chromosome, Genetic Linkage, Cleft Lip, Developmental Disabilities, Genetic Counseling, Locus (genetics), Ectodermal Dysplasia, medicine, Humans, Abnormalities, Multiple, Hypohidrotic ectodermal dysplasia, Genetics (clinical), Hypopigmentation, Psychomotor learning, Cleft lip palate, business.industry, Infant, Newborn, Syndrome, Anatomy, medicine.disease, Pedigree, Cleft Palate, Female, Congenital contracture, medicine.symptom, business
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المؤلفون: Jeanette C. Ramer, Roger L. Ladda, K. D. Eggli, Peter K. Rogan
المصدر: American Journal of Medical Genetics. 45:614-618
مصطلحات موضوعية: Male, Monozygotic twin, Osteochondrodysplasias, Meningocele, Short stature, Encephalocele, Diseases in Twins, Myopia, medicine, Humans, Stickler syndrome, Neural Tube Defects, Genetics (clinical), Occipital encephalocele, business.industry, Syndrome, Twins, Monozygotic, Anatomy, medicine.disease, Osteochondrodysplasia, Phenotype, Child, Preschool, Weissenbacher–Zweymüller syndrome, medicine.symptom, business, Brachycephaly
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6
المصدر: Pediatric Radiology. 22:257-261
مصطلحات موضوعية: Connective Tissue Disorder, Pediatrics, medicine.medical_specialty, X Chromosome, Adolescent, business.industry, Osteochondrodysplasias, medicine.disease, Bone and Bones, Radiography, Child, Preschool, Pediatrics, Perinatology and Child Health, Melnick–Needles syndrome, Humans, Medicine, Female, Radiology, Nuclear Medicine and imaging, Child, business, X chromosome, Genes, Dominant, Ureteral Obstruction, Neuroradiology
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المصدر: American Journal of Medical Genetics. 44:197-199
مصطلحات موضوعية: Adult, Male, medicine.medical_treatment, Aplasia cutis congenita, Cicatrix, Ectodermal Dysplasia, Anterior hairline, Humans, Medicine, Abnormalities, Multiple, Hypertelorism, Genetics (clinical), Genes, Dominant, Scalp, business.industry, Infant, Newborn, Autosomal dominant trait, Anatomy, Short palpebral fissure, medicine.disease, Cranioplasty, Frontal bone, Agenesis, Frontal Bone, Female, medicine.symptom, business
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المصدر: Journal of child neurology. 11(1)
مصطلحات موضوعية: Heart Defects, Congenital, Pediatrics, medicine.medical_specialty, Psychometrics, Cerebral palsy, Hypoplastic left heart syndrome, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Cardiac Surgical Procedures, Retrospective Studies, Neurologic Examination, Cardiopulmonary Bypass, Age Factors, Infant, Newborn, Infant, Hypothermia, medicine.disease, Surgery, Survival Rate, Treatment Outcome, Great arteries, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurologic examinations, Neurology (clinical), medicine.symptom, Psychology, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64fb223a9e9c6d6a4eb73844c494d552
https://pubmed.ncbi.nlm.nih.gov/8745386 -
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المؤلفون: Ellen J. Hess, Roger L. Ladda, Jeanette C. Ramer, Mark Domoto, Peter K. Rogan, Dorris E. Tinker
المصدر: American journal of medical genetics. 60(6)
مصطلحات موضوعية: Adult, Male, Adolescent, Genetic Linkage, Locus (genetics), Biology, Gene mutation, Mice, Gene mapping, Genetic linkage, Genetic model, medicine, Animals, Humans, Child, Genetics (clinical), Aged, Genetics, Phenocopy, Coloboma, Models, Statistical, Middle Aged, medicine.disease, Penetrance, Mice, Mutant Strains, Pedigree, Attention Deficit Disorder with Hyperactivity, Child, Preschool, Female
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المؤلفون: Robin Winter, Roger L. Ladda, Ségolène Aymé, Angela E. Lin, Jeanette C. Ramer, William B. Dobyns, Rosanna Pallotta
المصدر: American journal of medical genetics. 57(3)
مصطلحات موضوعية: Male, Adolescent, Developmental Disabilities, Lissencephaly, Trigonocephaly, Biology, Gyrus Cinguli, Craniosynostosis, Ptosis, Intellectual Disability, medicine, Blepharoptosis, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Chromosomal inversion, Coloboma, Pachygyria, Infant, Newborn, Dysostosis, Anatomy, Syndrome, medicine.disease, Chromosomes, Human, Pair 2, Frontal Bone, Female, medicine.symptom, Orbit