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المؤلفون: Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Björn Fischer, Serene C. Chng, Yun Li, Mohammad Shboul, Puay-Yoke Tham, Hülya Kayserili, Lihadh Al-Gazali, Monzer Shahwan, Francesco Brancati, Hane Lee, Brian D. O’Connor, Mareen Schmidt-von Kegler, Barry Merriman, Stanley F. Nelson, Amira Masri, Fawaz Alkazaleh, Deanna Guerra, Paola Ferrari, Arti Nanda, Anna Rajab, David Markie, Mary Gray, John Nelson, Arthur Grix, Annemarie Sommer, Ravi Savarirayan, Andreas R. Janecke, Elisabeth Steichen, David Sillence, Ingrid Haußer, Birgit Budde, Gudrun Nürnberg, Peter Nürnberg, Petra Seemann, Désirée Kunkel, Giovanna Zambruno, Bruno Dallapiccola, Markus Schuelke, Stephen Robertson, Hanan Hamamy, Bernd Wollnik, Lionel Van Maldergem, Stefan Mundlos, Uwe Kornak
المصدر: Nature Genetics. 54:213-213
مصطلحات موضوعية: Genetics
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2
المؤلفون: James F. Reynolds, Annemarie Sommer, Thaddeus E. Kelly
المصدر: Clinical Genetics. 25:267-272
مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, macromolecular substances, Biology, Fingers, Genetics, medicine, Humans, Genetics (clinical), Aged, Polydactyly, Preaxial polydactyly, Genetic Variation, Infant, Anatomy, Toes, medicine.disease, Penetrance, Pedigree, body regions, Phenotype, Thumb, Polysyndactyly, Mutation, Female, Dominant inheritance
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المؤلفون: Stephen R. Braddock, Azza Abd El Moneim, Raoul C.M. Hennekam, Jeffrey E. Ming, Judith Allanson, Annick Raas-Rothschild, Dagmar Wieczorek, David J. Aughton, Alain Verloes, Karen W. Gripp, Theresa A. Grebe, Sarah M. Nikkel, Bryan D. Hall, Nicole Philip, Kirk Aleck, Annemarie Sommer, Nancy Mizue Kokitsu-Nakata, Linlea Armstrong, Alasdair G. W. Hunter, Clarisse Baumann, Claudia U. Walter, Gabriele Gillessen-Kaesbach, Angela E. Lin, John M. Graham, Elaine H. Zackai, Kim M. Keppler-Noreuil, Didier Lacombe, Marc S. Williams
المصدر: American Journal of Medical Genetics Part A. :265-272
مصطلحات موضوعية: Genetics, Pediatrics, medicine.medical_specialty, business.industry, Paternal age, medicine.disease, Genetic etiology, Popliteal pterygium syndrome, Gene duplication, medicine, Etiology, Van der Woude syndrome, IRF6, business, Kabuki syndrome, Genetics (clinical)
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المؤلفون: Patricia A. Spallone, Annemarie Sommer, Holly H. Hobart, Carolyn B. Mervis, Jacquelyn Bertrand, Gregory J. Ensing, Colleen A. Morris, Mark T. Keating, Cynthia A. Moore, Ronald G. Gregg, Lucy R. Osborne, Kendra W. Kimberley, Robert J. Hopkin, A. Dean Stock
المصدر: American Journal of Medical Genetics. :45-59
مصطلحات موضوعية: Adult, Male, Williams Syndrome, Adolescent, Genotype, Loss of Heterozygosity, Hemizygosity, Protein Serine-Threonine Kinases, LIMK1, Biology, Loss of heterozygosity, Transcription Factors, TFII, Intellectual Disability, medicine, Humans, Child, Genetics (clinical), Intelligence Tests, Genetics, Lim Kinases, medicine.disease, Phenotype, Pedigree, DNA-Binding Proteins, Developmental disorder, Child, Preschool, Female, Williams syndrome, Chromosome Deletion, Haploinsufficiency, Protein Kinases, Chromosomes, Human, Pair 7
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9fce37d923d6ec10d7ddefca4a275d3
https://doi.org/10.1002/ajmg.a.20496 -
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المؤلفون: Annemarie Sommer, Dennis Bartholomew
المصدر: American Journal of Medical Genetics. :91-94
مصطلحات موضوعية: Adult, Male, Adolescent, Depressed nasal bridge, Hearing loss, Mutation, Missense, Deafness, Craniofacial Abnormalities, medicine, Humans, Paired Box Transcription Factors, Missense mutation, Craniofacial, Hypertelorism, Child, PAX3 Transcription Factor, Genetics (clinical), Hand deformity, Waardenburg syndrome, business.industry, Infant, Syndrome, Anatomy, Hand Deformities, medicine.disease, DNA-Binding Proteins, Child, Preschool, Female, Ulnar deviation, medicine.symptom, business, Follow-Up Studies, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64335d1302ee6875d3686efd26e0dc94
https://doi.org/10.1002/ajmg.a.20501 -
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المؤلفون: James F. Reynolds, Véronique David, Annemarie Sommer, Sylvie Odent, Lucia Y. Brown, Maximilian Muenke, Christèle Dubourg, Mauricio A. Delgado, Bryan D. Hall, Can Apacik, Dagmar Wieczorek, Stephen Brown, Martine Blayau
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Molecular Sequence Data, Biology, ZIC2, medicine.disease_cause, Genomic Imprinting, Holoprosencephaly, Genetics, medicine, Humans, Amino Acid Sequence, Somatic recombination, Molecular Biology, Gene, Genetics (clinical), Loss function, Recombination, Genetic, Mutation, Alanine, Polymorphism, Genetic, Nuclear Proteins, Zinc Fingers, General Medicine, medicine.disease, Pedigree, Female, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Haploinsufficiency, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47a2eb1207687848ccaa54856cddd5cc
https://doi.org/10.1093/hmg/10.8.791 -
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المؤلفون: H. Toriello, Steven E.R. Hovius, Martijn H. Breuning, Ad F. M. Diepstraten, Annemarie Sommer, Arnold P. Oranje, R.A.Th.M. Langemeijer, J C den Hollander, J.R. Dwek, N. Baumgartner
المصدر: American Journal of Medical Genetics. 94:91-101
مصطلحات موضوعية: Coloboma, Setleis syndrome, business.industry, Dysostosis, Anatomy, medicine.disease, Microphthalmia, Focal dermal hypoplasia, body regions, stomatognathic diseases, Anal atresia, Dysplasia, medicine, Fibroma, business, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b73a7e5bdc30bf3b5494ec19a525a854
https://doi.org/10.1002/1096-8628(20000911)94:2<91::aid-ajmg1>3.0.co;2-d -
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المؤلفون: Robert Morell, Thomas B. Friedman, Annemarie Sommer, James H. Asher
المصدر: Human Mutation. 7:30-35
مصطلحات موضوعية: Genetics, Waardenburg syndrome, Nonsense mutation, Pax genes, Biology, medicine.disease, Molecular biology, Frameshift mutation, medicine, Missense mutation, Hypertelorism, medicine.symptom, Transversion, Waardenburg Syndrome Type 1, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::eee7589842b6e5c15cd571c08fc288dd
https://doi.org/10.1002/(sici)1098-1004(1996)7:1<30::aid-humu4>3.0.co;2-t -
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المؤلفون: James H. Asher, Annemarie Sommer, Robert Morell, Thomas B. Friedman
المصدر: Human Mutation. 7:30-35
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::74bcf57eb86aa55fd43889399e2d460f
https://doi.org/10.1002/(sici)1098-1004(1996)7:1<30::aid-humu4>3.3.co;2-h -
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المصدر: Journal of Child Neurology. 9:135-138
مصطلحات موضوعية: Male, medicine.medical_specialty, Microcephaly, Adolescent, Hydrocortisone, Achalasia, Very long chain, Biology, Alacrima, Electron Transport, Consanguinity, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, medicine, Adrenal insufficiency, Humans, Child, Fatty Acids, Lacrimal Apparatus, Peripheral Nervous System Diseases, Syndrome, medicine.disease, Hypoglycemia, Enzymes, Mitochondria, Muscle, Esophageal Achalasia, Muscular Atrophy, Mitochondrial respiratory chain enzymes, Endocrinology, Peripheral neuropathy, Pediatrics, Perinatology and Child Health, Female, Adrenoleukodystrophy, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery, Adrenal Insufficiency
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb954a65711c3a617a765a6d8384b8e0
https://doi.org/10.1177/088307389400900206