المؤلفون: Quinn S. Wells, Natalie L. Ausborn, Birgit H. Funke, Jean P. Pfotenhauer, Joseph L. Fredi, Samantha Baxter, Thomas G. DiSalvo, Charles C. Hong

المصدر: Cardiogenetics, Vol 1, Iss 1, Pp e10-e10 (2011)

مصطلحات موضوعية: dilated cardiomyopathy, vinculin, myosin binding protein C, VCL, MYBPC., Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: http://www.pagepressjournals.org/index.php/cardiogen/article/view/29; https://doaj.org/toc/2035-8253; https://doaj.org/toc/2035-8148

URL الوصول: https://doaj.org/article/47825e1ff142456eba91fd7fd1256348

المؤلفون: Bronwyn Harris, Jean P. Pfotenhauer, Cheri A. Silverstein, Larry W. Markham, Kim Schafer, Vernat J. Exil, Charles C. Hong

المصدر: Cardiology Research and Practice, Vol 2010 (2010)

مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-8016; https://doaj.org/toc/2090-0597

URL الوصول: https://doaj.org/article/c591dd88ea1b4ebba7e0acd31d6b9323

المؤلفون: Michael S. Paul, Vickie L. Hannig, Anna Bican, John H. Newman, Joy D. Cogan, Thomas Morgan, Laura Duncan, Jessica Duis, Rena Vanzo, Rizwan Hamid, Jean P. Pfotenhauer, Mary Koziura, John A. Phillips, Kendall J. Burdick, Elly Brokamp, Lynette Rives, Amy K. Robertson

المصدر: Am J Med Genet A

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, 030105 genetics & heredity, Bioinformatics, Undiagnosed Diseases, Article, DNA sequencing, 03 medical and health sciences, Rare Diseases, Exome Sequencing, Genetics, Humans, Medicine, Exome, Genetic Predisposition to Disease, Genetic Testing, Copy-number variation, Medical diagnosis, Genetics (clinical), Exome sequencing, Genetic testing, Whole Genome Sequencing, medicine.diagnostic_test, business.industry, 030104 developmental biology, Medical genetics, business, Trinucleotide repeat expansion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4e02e5dbcbd76fd65feed83dfd974e8
https://doi.org/10.1002/ajmg.a.61558

المؤلفون: Francisca Millan, Mieke M. van Haelst, Ankita Patel, Cédric Le Caignec, Jean P. Pfotenhauer, Wendy E. Smith, Denise Horn, Klaske D. Lichtenbelt, Tanner Hagelstrom, David A. Dyment, Ryan J. Taft, Jill V. Hunter, Jolanta Wierzba, Margarita Saenz, Ian D. Krantz, Denise L. Perry, Luis F. Escobar, Bertrand Isidor, Ingrid Cristian, Richard E. Person, Aditi Chawla, Michael D. Fountain, Diane Masser-Frye, Sarah E. Raible, Koen L.I. van Gassen, Erin Torti, Weimin Bi, Philip J. Lupo, Jill A. Rosenfeld, Chumei Li, Claude Férec, Robert C. Pedersen, Megan E. Rech, Fan Xia, Sébastien Küry, Ilaria Parenti, Ingrid M. Wentzensen, Loren D M Pena, Jane Juusola, Manuel Holtgrewe, Frank J. Kaiser, John M. McCarthy, David S. Oleson, Arnold Munnich, Kévin Uguen, Thomas M. Morgan, Lara Segebrecht, Sung Hae L. Kang, Nadja Ehmke, Sunita Venkateswaran, Christian P. Schaaf, Marilyn C. Jones, Tim M. Strom, Rocio Moran, Stéphane Bézieau, Rebecca C. Spillmann

المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Genetics in Medicine, 21(8), 1797. Lippincott Williams and Wilkins
Genet. Med. 21, 1797-1807 (2019)
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8
Fountain, M D, Oleson, D S, Rech, M E, Segebrecht, L, Hunter, J V, McCarthy, J M, Lupo, P J, Holtgrewe, M, Moran, R, Rosenfeld, J A, Isidor, B, le Caignec, C D, Saenz, M S, Pedersen, R C, Morgan, T M, Pfotenhauer, J P, Xia, F, Bi, W, Kang, S-H L, Patel, A, Krantz, I D, Raible, S E, Smith, W, Cristian, I, Torti, E, Juusola, J, Millan, F, Wentzensen, I M, Person, R E, Küry, S B, Bézieau, S, Uguen, K V, Férec, C, Munnich, A, van Haelst, M, Lichtenbelt, K D, van Gassen, K, Hagelstrom, T, Chawla, A, Perry, D L, Taft, R J, Jones, M, Masser-Frye, D, Dyment, D, Venkateswaran, S, Li, C, Escobar, L F, Horn, D, Spillmann, R C, Peña, L, Wierzba, J, Strom, T M, Parenti, I, Kaiser, F J, Ehmke, N & Schaaf, C P 2019, ' Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies ', Genetics in Medicine, vol. 21, no. 8, pp. 1797-1807 . https://doi.org/10.1038/s41436-019-0433-1
Genetics in Medicine
Genetics in Medicine, 21(8), 1797-1807. Lippincott Williams and Wilkins

مصطلحات موضوعية: speech delay, Autism Spectrum Disorder, Autism, Haploinsufficiency, Bioinformatics, Whole Exome Sequencing, white matter paucity, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, 2.1 Biological and endogenous factors, Genetics(clinical), Child, Genetics (clinical), Exome sequencing, Pediatric, Genetics & Heredity, 0303 health sciences, Genome, neurodevelopment, Nuclear Proteins, Phenotype, Hypotonia, ddc, 3. Good health, DNA-Binding Proteins, Mental Health, Autism spectrum disorder, Speech delay, Chromosome Deletion, medicine.symptom, Human, Adolescent, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Article, 03 medical and health sciences, Clinical Research, Usp7, Neurodevelopment, Speech Delay, White Matter Paucity, Corpus Callosum Thinning, Intellectual Disability, 030225 pediatrics, Behavioral and Social Science, Genetics, medicine, Humans, Language Development Disorders, Preschool, 030304 developmental biology, Problem Behavior, business.industry, corpus callosum thinning, Neurosciences, Proteins, Infant, Newborn, medicine.disease, Brain Disorders, Neurodevelopmental Disorders, USP7, Congenital Structural Anomalies, business

وصف الملف: application/pdf; text/plain; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f11f31e0314c44e1f69c492869e6442b
https://doi.org/10.1038/s41436-019-0433-1

المؤلفون: Martin A. Weber, Louise Devisme, Przemyslaw Szafranski, Fernando Scaglia, Megan K. Dishop, Eric Bieth, Claire Beneteau, Bruce Bennetts, Chantal Missirian, David Mowat, Sébastien Küry, Mark H. Lipson, Jennifer N. Dines, Justyna A. Karolak, James R. Lupski, Iben Bache, Amanda S. Freed, Véronique Secq, Bertrand Isidor, Gwenaelle André, Linda Pons, Anne Chun Hui Tsai, Qian Liu, Maria Orsaria, Claudia Gonzaga-Jauregui, Francesco Vetrini, Wendy K. Chung, Nicolas Joram, Jelena Martinovic, Marie Vincent, Cornelius F. Boerkoel, Arie van Haeringen, Tina M. Bartell, Gail H. Deutsch, Olivier Pichon, John A. Phillips, Marie Denis-Musquer, Zeynep Tümer, Tomasz Gambin, Nicolas Chassaing, Thomas Besnard, Edwina J. Popek, Arnaud Molin, Andrew J. Gifford, Zeynep Coban Akdemir, Benjamin Cogné, Kathleen A. Leppig, Galen M. Schauer, Catherine Mercer, Catherine Ward-Melver, Chester W. Brown, Jean Michel Liet, Dominique Carles, Madeleine Joubert, Lara Chalabreysse, Cédric Le Caignec, Damien Sanlaville, Tiphaine Bihouée, Heather C Mefford, Jean P. Pfotenhauer, Pawel Stankiewicz, Massimiliano Don, Anna F. Lee, Jérémie Mortreux, Katrina M. Dipple, Florence Petit, Katie Golden-Grant, Stéphane Bézieau, Shalini N. Jhangiani, Dorothy K. Grange, Laurent Pasquier, Daryl A. Scott

المساهمون: Centre hospitalier universitaire de Nantes (CHU Nantes), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), 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), Biomolécules et biotechnologies végétales (BBV EA 2106), Université de Tours, Division of Genetic Medicine [Seattle], University of Washington [Seattle], Laboratoire de dynamique des systèmes neuroendocriniens, Institut National de la Santé et de la Recherche Médicale (INSERM), Copenhagen University Hospitals, Clinical genetic clinic, Copenhagen University Hospital, Service de Pathologie, Centre hospitalier universitaire de Nantes (CHU Nantes)-Hôpital Femme-Enfant-Adolescent, Service de foetopathologie, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Service de Génétique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Normandie Université (NU)-Normandie Université (NU), Service d'anatomie pathologique, CHU Bordeaux [Bordeaux], Université Bordeaux Segalen - Bordeaux 2, Service de Génétique [Purpan], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Pôle de Pathologie, Centre de Biologie Pathologie, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de génétique clinique [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-Hôpital Sud, Unité de recherche interdisciplinaire pour la prévention et le traitement des cancers (ANTICIPE), Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN)-Centre Régional de Lutte contre le Cancer François Baclesse (CRLC François Baclesse ), Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Institut National de la Santé et de la Recherche Médicale (INSERM), service hospitalier d'anatomie et cytologie pathologique humaine, APHM, Marseille, Assistance Publique - Hôpitaux de Marseille (APHM), Laboratoire de génétique chromosomique [Hôpital de la Timone - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], 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 de référence des anomalies du développement [Lyon], Hospices Civils de Lyon (HCL), Service de Génétique, Hospices Civils de Lyon (HCL)-Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL)-Groupe Hospitalier Est, University of Missouri [Columbia], University of Missouri System, Wuhan National Laboratory for Optoelectronics-Huazhong University of Science and Technology, Baylor College of Medicine (BCM), Baylor University, Poznan University of Medical Sciences [Poland] (PUMS), 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), Seattle Children’s Hospital, Institute of Mother and Child, Baylor College of Medecine, Kaiser Permanente, Phoenix Children's Hospital, Sydney Children's hospital, The University of Sydney, Prince of Wales Hospital, University of British Columbia (UBC), Akron Children's Hospital, University of Copenhagen = Københavns Universitet (UCPH), AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Lille, Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN)-Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-UNICANCER-Institut National de la Santé et de la Recherche Médicale (INSERM), Sant’Antonio General Hospital, Università degli Studi di Udine - University of Udine [Italie], Université de Lyon, The University of Tennessee Health Science Center [Memphis] (UTHSC), University of Colorado [Colorado Springs] (UCCS), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Vanderbilt University Medical Center [Nashville], Vanderbilt University [Nashville], Regeneron Pharmaceuticals [Tarrytown], University of Missouri [Columbia] (Mizzou), University Hospital Southampton NHS Foundation Trust, Universiteit Leiden, University of Copenhagen = Københavns Universitet (KU), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-hôpital Sud, CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-UNICANCER, Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Leiden University

المصدر: American Journal of Human Genetics, 104(2), 213-228. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, 2019, 104 (2), pp.213-228. ⟨10.1016/j.ajhg.2018.12.010⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (2), pp.213-228. ⟨10.1016/j.ajhg.2018.12.010⟩

مصطلحات موضوعية: 0301 basic medicine, Lung Diseases, Male, Pathology, Organogenesis, 030105 genetics & heredity, Fibroblast growth factor, T-box transcription factor 4, Infant, Newborn, Diseases, Lung, Genetics (clinical), lacrimoauriculodentodigital (LAAD) syndrome, respiratory system, Hypoplasia, 3. Good health, Pedigree, medicine.anatomical_structure, lung hypoplasia, Paternal Inheritance, Female, Maternal Inheritance, Signal Transduction, medicine.medical_specialty, DNA Copy Number Variations, 17q23.1q23.2 recurrent deletion, neonatal lung disease, Gestational Age, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 5p12 deletion, Genetics, medicine, Humans, Lung hypoplasia, Receptor, Fibroblast Growth Factor, Type 2, Enhancer, [SDV.GEN]Life Sciences [q-bio]/Genetics, FGF10, Infant, Newborn, medicine.disease, 030104 developmental biology, Gene Expression Regulation, Dysplasia, aplasia of lacrimal and salivary glands, T-Box Domain Proteins, Fibroblast Growth Factor 10

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d1e4f18fb660d5924e3d01e7a03436d
https://hdl.handle.net/1887/122774

المؤلفون: Paul R. Mark, Katherine A. Bosanko, Vikas Bhambhani, Steven Sparagana, Laurie S. Sadler, Aisling R. Caffrey, Sixto García-Miñaur, Marilyn C. Jones, Douglas M. Smith, Andrea H. Seeley, Ann Oostra, Donna M. Martin, Marieke F. van Dooren, Melissa Lees, Melanie A. Manning, Meena Balasubramanian, Adeline Vanderver, Valeria Orlando, Maria Lisa Dentici, Ariel Brautbar, Elizabeth Roeder, Dorothy K. Grange, Jennifer L. Fish, Ralitza H. Gavrilova, Lot Snijders Blok, Jane Maclean, Marcelo Vargas, Suzanne I. M. Alsters, Daniela Melis, Lesley Turner, Eliana Kovitch, Yuri A. Zarate, Sakkubai Naidu, Lucía Spangenberg, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Mark H. Lipson, Hilde Van Esch, Maria Schwab, Víctor Raggio, Timothy James Maarup, Marc S. Williams, Jean P. Pfotenhauer, Rebecca O. Littlejohn, Bert Callewaert, Adnan Alsadah, Antonio Martinez-Monseny, Juvianee I. Estrada-Veras

المساهمون: Human genetics, Clinical Genetics

المصدر: Zarate, Y A, Bosanko, K A, Caffrey, A R, Bernstein, J A, Martin, D M, Williams, M S, Berry-Kravis, E M, Mark, P R, Manning, M A, Bhambhani, V, Vargas, M, Seeley, A H, Estrada-Veras, J I, van Dooren, M F, Schwab, M, Vanderver, A, Melis, D, Alsadah, A, Sadler, L, Van Esch, H, Callewaert, B, Oostra, A, Maclean, J, Dentici, M L, Orlando, V, Lipson, M, Sparagana, S P, Maarup, T J, Alsters, S I M, Brautbar, A, Kovitch, E, Naidu, S, Lees, M, Smith, D M, Turner, L, Raggio, V, Spangenberg, L, Garcia-Miñaúr, S, Roeder, E R, Littlejohn, R O, Grange, D, Pfotenhauer, J, Jones, M C, Balasubramanian, M, Martinez-Monseny, A, Blok, L S, Gavrilova, R & Fish, J L 2019, ' Mutation update for the SATB2 gene ', Human Mutation, vol. 40, no. 8, pp. 1013-1029 . https://doi.org/10.1002/humu.23771
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Human Mutation, 40, 8, pp. 1013-1029
Human Mutation, 40(8), 1013-1029. Wiley-Liss Inc.
Human Mutation, 40, 1013-1029

مصطلحات موضوعية: Premature Stop Codon, Male, Adolescent, genotype-phenotype correlation, Mutation, Missense, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, 03 medical and health sciences, whole exome sequencing, Neurodevelopmental disorder, All institutes and research themes of the Radboud University Medical Center, SATB2-associated syndrome, Genetics, medicine, Missense mutation, Coding region, Animals, Humans, Child, Gene, Genetics (clinical), Exome sequencing, Genetic Association Studies, 030304 developmental biology, Gene Rearrangement, 0303 health sciences, Mutation, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 030305 genetics & heredity, SATB2, Matrix Attachment Region Binding Proteins, medicine.disease, Phenotype, pathogenic variants, Disease Models, Animal, Neurodevelopmental Disorders, Child, Preschool, Codon, Terminator, Female, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e618cf5dc8d5560df1a89aab788c591
https://research.vumc.nl/en/publications/a015dcda-8599-43e0-a2f4-230f413d8e17

المؤلفون: Ian D. Krantz, Sung Hae L. Kang, Christian P. Schaaf, Yi Heng Hao, Michael D. Fountain, Fan Xia, Jean P. Pfotenhauer, Sarah E. Noon, Patrick Ryan Potts, Jill A. Rosenfeld, Robert C. Pedersen, Klementina Fon Tacer, Margarita Saenz, Bertrand Isidor, Weimin Bi, Ankita Patel, Cédric Le Caignec, Thomas M. Morgan, Rocio Moran

المصدر: Molecular Cell. 59(6):956-969

مصطلحات موضوعية: Male, Adolescent, Endosome, Autism Spectrum Disorder, Hypothalamus, Cellular homeostasis, Endosomes, Haploinsufficiency, Article, Deubiquitinating enzyme, Ubiquitin-Specific Peptidase 7, Ubiquitin, Intellectual Disability, Humans, Nuclear protein, Child, Molecular Biology, Sequence Deletion, chemistry.chemical_classification, Feedback, Physiological, Neurons, DNA ligase, biology, Microfilament Proteins, Ubiquitination, Nuclear Proteins, Cell Biology, HCT116 Cells, Ubiquitin ligase, Transport protein, DNA-Binding Proteins, Protein Transport, Biochemistry, chemistry, Child, Preschool, Proteolysis, biology.protein, Female, Ubiquitin Thiolesterase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24586b114d74bad8f54b096b9ba1b3e1

المؤلفون: Aaron Theisen, Dennis Bartholomew, Kim L. McBride, Wendy E. Smith, Jean P. Pfotenhauer, Caroline Astbury, Pawel Stankiewicz, Lisa G. Shaffer, Julia A. Keene, William Gallentine, John A. Phillips, Blake C. Ballif, M. Katharine Rudd, Kate P. Shane, Pamela L. Brock, Bassem A. Bejjani, Robert E. Pyatt, Ryan N. Traylor, Valerie Banks, Jill A. Rosenfeld, Margaret P Adam, Julie M. Gastier-Foster, Devon Lamb Thrush, Gordon C. Gowans

المصدر: The American Journal of Human Genetics. 86:454-461

مصطلحات موضوعية: Heart Defects, Congenital, Male, Microcephaly, Adolescent, Developmental Disabilities, Limb Deformities, Congenital, Non-allelic homologous recombination, Biology, Craniofacial Abnormalities, Segmental Duplications, Genomic, Report, Gene duplication, Genetics, medicine, Humans, Genetics(clinical), In Situ Hybridization, Fluorescence, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Segmental duplication, Recombination, Genetic, Comparative Genomic Hybridization, Breakpoint, Infant, Chromosome, Syndrome, medicine.disease, Phenotype, Child, Preschool, Speech delay, Female, Chromosome Deletion, medicine.symptom, T-Box Domain Proteins, Chromosomes, Human, Pair 17, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ed55a5c6c89e0d96eae5e318acc4052
https://doi.org/10.1016/j.ajhg.2010.01.038

المؤلفون: Laura D'Aoust, Larry W Markham, Charles C. Hong, Jean P. Pfotenhauer, Jonathan D. Mosley, Peter Weeke, Jason R Becker, Natalie L. Ausborn, Quinn S. Wells, Andrea H. Ramirez, Dan M. Roden, Yan Ru Su, Allen J. Naftilan, Vernat Exil

المصدر: Circulation. Cardiovascular genetics. 6(4)

مصطلحات موضوعية: Adult, Cardiomyopathy, Dilated, Male, Heterozygote, Adolescent, Genotype, Genetic Linkage, Mutation, Missense, Biology, Article, Cohort Studies, Young Adult, Gene Frequency, Genetic linkage, Databases, Genetic, Genetics, medicine, Humans, Exome, Allele, Child, Allele frequency, Genetics (clinical), Exome sequencing, Alleles, Computational Biology, RNA-Binding Proteins, Dilated cardiomyopathy, Sequence Analysis, DNA, Middle Aged, medicine.disease, Pedigree, Child, Preschool, Mutation (genetic algorithm), Female, Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca85f548ab4277a7940c3a42cf20593b
https://pubmed.ncbi.nlm.nih.gov/23861363

المؤلفون: Vickie L. Hannig, Williams, John A. Phillips, MP Cohen, Jean P. Pfotenhauer, TM Morgan

المصدر: Journal of genetic counseling. 23(1)

مصطلحات موضوعية: medicine.medical_specialty, Health Services Needs and Demand, Referral, business.industry, Service delivery framework, Public health, Genetic counseling, Data Collection, education, Genetic Counseling, Geneticist, Models, Theoretical, Patient satisfaction, Patient Satisfaction, Family medicine, Health care, medicine, Medical genetics, Humans, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71ba533ac227075fd3417306af9a3bb4
https://pubmed.ncbi.nlm.nih.gov/23723048