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المؤلفون: Laurent Pasquier, Anne V. Snow, David T. Miller, Louise Harewood, Christina Triantafallou, Timothy P.L. Roberts, Leighton B. Hinkley, Zili Chu, Louis Vallée, Alyss Lian Cavanagh, Evica Rajcan-Separovic, Patricia Blanchet, Fiona Miller, Robin P. Goin-Kochel, Beau Reilly, Bettina Cerban, Vanessa Siffredi, Bridget A. Fernandez, Roger Vaughan, Brianna M. Paul, Fanny Morice-Picard, Elisabeth Flori, Dominique Campion, Gérard Didelot, Anne Philippe, Christa Lese Martin, Srikantan S. Nagarajan, Joris Andrieux, Jacques Puechberty, Marie Pierre Cordier, Jill V. Hunter, Ellen van Binsbergen, Catherine Vincent-Delorme, Vivek Swarnakar, Jean Marie Cuisset, Monica Proud, Patrick Callier, Bert B.A. de Vries, Jeffrey I. Berman, Sarah J. Spence, Alexandra Bowe, Wendy K. Chung, Katy Ankenman, Katherine Hines, Sarah E. Gobuty, Philippe Jonveaux, Lisa Blaskey, Alice Goldenberg, Sylvie Jaillard, Alessandra Renieri, Anne M. Maillard, Tracy Luks, Lee Anne Green Snyder, Elliott H. Sherr, Sarah Y. Khan, Fabienne Prieur, Simon A. Zwolinski, Andres Metspalu, Ghislaine Plessis, Jean Chiesa, Rita J. Jeremy, Valérie Malan, Michèle Mathieu-Dramard, Loyse Hippolyte, Bethanny Smith-Packard, Andrea M. Paal, Bénédicte Duban Bedu, Claudine Rieubland, Jordan Burko, Sylvie Joriot, Philippe Conus, Dominique Bonneau, Benoit Arveiler, Nicole de Leeuw, Allison G. Dempsey, John E. Spiro, Julia Wenegrat, Bertrand Isidor, Cédric Le Caignec, Kyle J. Steinman, Bruno Delobel, Ashlie Llorens, Jacques S. Beckmann, Kelly Johnson, Sean Ackerman, Polina Bukshpun, Silvia Garza, Alexandre Reymond, Damien Sanlaville, Ellen Hanson, Martine Doco-Fenzy, Jacques Thonney, Mari Wakahiro, Juliane Hoyer, Jacqueline Vigneron, Katrin Õunap, Arthur L. Beaudet, Mandy Barker, Nicole Visyak, Sonia Bouquillon, W. Andrew Faucett, Raphael Bernier, Sudha Kilaru Kessler, Audrey Lynn Bibb, Dennis Shaw, R. Frank Kooy, Suzanne M E Lewis, Anna L. Laakman, Nicholas J. Pojman, Hubert Journel, Laura Bernardini, Arianne Stevens, Julia P. Owen, Rebecca Mc Nally Keehn, Stéphanie Selmoni, Sébastien Lebon, Aurélien Macé, Bruno Leheup, Saba Qasmieh, Zoltán Kutalik, Anita Rauch, Yiping Shen, Elysa J. Marco, Nathalie Van der Aa, Carina Ferrari, Noam D. Beckmann, Delphine Héron, Jennifer Tjernage, Benjamin Aaronson, Albert David, Marie Pierre Lemaitre, Muriel Holder, Eve Õiglane-Shlik, Anneke T. Vulto-van Silfhout, Flore Zufferey, Constance Atwell, Marta Benedetti, Ellen Grant, Jenna Elgin, Patricia Z. Page, Caroline Rooryck, Randy L. Buckner, Qixuan Chen, Laurence Faivre, Sébastien Jacquemont, Kerri P. Nowell, Florence Fellmann, Disciglio Vittoria, Katharina Magdalena Rötzer, Hana Lee, Alastair J. Martin, Marion Greenup, David H. Ledbetter, Katrin Männik, Morgan W. Lasala, Jennifer Gerdts, Hanalore Alupay, Florence Petit, Elizabeth Aylward, Gerald D. Fischbach, Mafalda Mucciolo, Maxwell Cheong, Gabriela Marzano, Frédérique Béna, Danielle Martinet, Timothy J. Moss, Odile Boute, Jennifer Olson, Marco Belfiore, Christina Fagerberg, Corby L. Dale, Robert M. Witwicki, Yolanda L. Evans, Melissa B. Ramocki, Marie-Claude Addor, Christèle Dubourg, Mariken Ruiter, Tuhin K. Sinha, Mieke M. van Haelst, Alan Packer, Kathleen E. McGovern, Christie M. Brewton, Stephen M. Kanne, Richard I. Fisher, Tracey Ward, Sophie Dupuis-Girod, Pratik Mukherjee
المساهمون: Simons VIP Consortium, 16p11.2 European Consortium, Addor, MC., Arveiler, B., Belfiore, M., Bena, F., Bernardini, L., Blanchet, P., Bonneau, D., Boute, O., Callier, P., Campion, D., Chiesa, J., Cordier, MP., Cuisset, JM., David, A., de Leeuw, N., de Vries, B., Didelot, G., Doco-Fenzy, M., Bedu, BD., Dubourg, C., Dupuis-Girod, S., Fagerberg, CR., Faivre, L., Fellmann, F., Fernandez, BA., Fisher, R., Flori, E., Goldenberg, A., Heron, D., Holder, M., Hoyer, J., Isidor, B., Jaillard, S., Jonveaux, P., Joriot, S., Journel, H., Kooy, F., le Caignec, C., Leheup, B., Lemaitre, MP., Lewis, S., Malan, V., Mathieu-Dramard, M., Metspalu, A., Morice-Picard, F., Mucciolo, M., Oiglane-Shlik, E., Ounap, K., Pasquier, L., Petit, F., Philippe, A., Plessis, G., Prieur, F., Puechberty, J., Rajcan-Separovic, E., Rauch, A., Renieri, A., Rieubland, C., Rooryck, C., Rötzer, KM., Ruiter, M., Sanlaville, D., Selmoni, S., Shen, Y., Siffredi, V., Thonney, J., Vallée, L., van Binsbergen, E., Van der Aa, N., van Haelst MM., Vigneron, J., Vincent-Delorme, C., Vittoria, D., Vulto-van Silfhout AT., Witwicki, RM., Zwolinski, SA., Bowe, A., Beaudet, AL., Brewton, CM., Chu, Z., Dempsey, AG., Evans, YL., Garza, S., Kanne, SM., Laakman, AL., Lasala, MW., Llorens, AV., Marzano, G., Moss, TJ., Nowell, KP., Proud, MB., Chen, Q., Vaughan, R., Berman, J., Blaskey, L., Hines, K., Kessler, S., Khan, SY., Qasmieh, S., Bibb, AL., Paal, AM., Page, PZ., Smith-Packard, B., Buckner, R., Burko, J., Cavanagh, AL., Cerban, B., Snow, AV., Snyder, LG., Keehn, RM., Miller, DT., Miller, FK., Olson, JE., Triantafallou, C., Visyak, N., Atwell, C., Benedetti, M., Fischbach, GD., Greenup, M., Packer, A., Bukshpun, P., Cheong, M., Dale, C., Gobuty, SE., Hinkley, L., Jeremy, RJ., Lee, H., Luks, TL., Marco, EJ., Martin, AJ., McGovern, KE., Nagarajan, SS., Owen, J., Paul, BM., Pojman, NJ., Sinha, T., Swarnakar, V., Wakahiro, M., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Elgin, J., Gerdts, J., Johnson, K., Reilly, B., Shaw, D., Stevens, A., Ward, T., Wenegrat, J., Other departments, Service de génétique médicale, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), CHU Pontchaillou [Rennes], Department of Medical Genetics, Université de Lausanne (UNIL), Centre de Génétique Chromosomique, Hôpital Saint Vincent de Paul-GHICL, Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Texas Children's Hospital [Houston, USA], Department of pediatrics, Primary palliative Care Research Group, Community Health Sciences, General Practice Section, University of Edinburgh, Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL), Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Developmental Brain and Behaviour Unit, University of Southampton, Institute of Molecular and Cell Biology, University of Tartu, Department of Human Genetics, UCLA, University of California [Los Angeles] (UCLA), University of California-University of California-Semel Institute, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Université de Lausanne = University of Lausanne (UNIL), Hôpital Saint Vincent de Paul-Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), Université de Lausanne = University of Lausanne (UNIL)-Université de Lausanne = University of Lausanne (UNIL), University of California (UC)-University of California (UC)-Semel Institute, Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Kooy, Frank
المصدر: Journal of Medical Genetics
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of medical genetics, 49(10), 660-668. BMJ Publishing Group
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of Medical Genetics, 2012, 49 (10), pp.660-8. ⟨10.1136/jmedgenet-2012-101203⟩
Journal of medical genetics
JOURNAL OF MEDICAL GENETICSمصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Heterozygote, Adolescent, [SDV]Life Sciences [q-bio], Developmental Disabilities, Biology, Body Mass Index, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Gene Order, Genetics, medicine, Humans, Copy-number variation, Clinical genetics, Obesity, Young adult, Child, Genetics (clinical), 030304 developmental biology, Child Development Disorders, Pervasive/diagnosis, Child Development Disorders, Pervasive/genetics, Chromosome Deletion, Chromosomes, Human, Pair 16, Developmental Disabilities/diagnosis, Developmental Disabilities/genetics, Female, Intelligence Tests, Phenotype, Syndrome, 2. Zero hunger, Psychiatry, 0303 health sciences, Intelligence quotient, Neuropsychology, Complex traits, medicine.disease, Comorbidity, 3. Good health, Autism spectrum disorder, Child Development Disorders, Pervasive, Autism, Medical genetics, Human medicine, Copy-Number Variation, 030217 neurology & neurosurgery
وصف الملف: application/pdf; pdf
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المؤلفون: Sonja A. de Munnik, Claudia A. L. Ruivenkamp, Dorit Lev, Birgit Sikkema-Raddatz, Willie Reardon, Conny M. A. van Ravenswaaij-Arts, Marielle E M Swinkels, Mariken Ruiter, Hermine E. Veenstra-Knol, Ayala Frumkin, Corien C. Verschuuren-Bemelmans, Trijnie Dijkhuizen, Nicole de Leeuw, Christina Evers, Anthonie J. van Essen, Patrick Rump, Wilma Oostdijk
المساهمون: Ethical, Legal, Social Issues in Genetics (ELSI)
المصدر: American Journal of Medical Genetics Part A, 164A(11), 2707-2723
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 164(11), 2707-2723. Wiley
American Journal of Medical Genetics. Part A, 164A, 11, pp. 2707-23
American Journal of Medical Genetics. Part A, 164A, 2707-23مصطلحات موضوعية: TBX1, Adult, Male, Microcephaly, Adolescent, PHENOTYPIC VARIABILITY, Locus (genetics), HEART-DEFECTS, Biology, CHROMOSOME 22Q11, DEL22Q11 SYNDROME, CARDIO-FACIAL SYNDROME, MAPK1, Young Adult, DiGeorge syndrome, Prenatal Diagnosis, Gene Order, Genetics, medicine, DiGeorge Syndrome, Humans, Family, deletion, Child, Gene, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], distal, Facies, CRKL, medicine.disease, Phenotype, 22q11, VELOCARDIOFACIAL SYNDROME, atypical, Genetic Loci, Child, Preschool, DIGEORGE-SYNDROME, Female, Haploinsufficiency, DISTAL DELETION, DIGEORGE/VELOCARDIOFACIAL SYNDROME
وصف الملف: application/pdf
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المؤلفون: Mariken Ruiter, Erik-Jan Kamsteeg, Germana Meroni, Bert B.A. de Vries
المساهمون: Ruiter, Marikena, Kamsteeg, Erik Jana, Meroni, Germana, de Vries, Bert B. A.
المصدر: Clinical Dysmorphology, 19, 4, pp. 195-7
Clinical Dysmorphology, 19, 195-7مصطلحات موضوعية: Male, medicine.medical_specialty, Ubiquitin-Protein Ligases, Mutation, Missense, Opitz Syndrome, Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders [IGMD 3], Esophagus, MID1 gene, Internal medicine, medicine, Missense mutation, Humans, Hypertelorism, Gene, Genetics (clinical), Loss function, Genetics, Chromosomes, Human, X, Hypospadias, business.industry, MID1 gene, Mutations, Opitz Syndrome, Infant, Nuclear Proteins, Genetic Diseases, X-Linked, General Medicine, Opitz G/BBB Syndrome, medicine.disease, Penetrance, Magnetic Resonance Imaging, Endocrinology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Microtubule Proteins, Female, Anatomy, medicine.symptom, business, Mutations, Transcription Factors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eebc67362c07ecd8b21c17e00ad05352
https://hdl.handle.net/2066/89543 -
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المؤلفون: Lillian Eshuis, Erika Viragh, Annette Schenck, Licio Collavin, Zoltan Asztalos, Bregje W.M. van Bon, Richard J. Rodenburg, Jan A.M. Smeitink, Bert B.A. de Vries, Leo G.J. Nijtmans, Patrik Verstreken, Melissa Vos, Martijn A. Huynen, Nicole de Leeuw, Mariken Ruiter, Merel A.W. Oortveld, Falko Hofmann, Michaela Fenckova, Judith A. Besseling, Lenke Asztalos, Bonnie Nijhof, Anna Castells-Nobau, Jamie M. Kramer
المساهمون: B. W. M., van Bon, M. A. W., Oortveld, L. G., Nijtman, M., Fenckova, B., Nijhof, J., Besseling, M., Vo, J. M., Kramer, N., de Leeuw, A., Castells Nobau, L., Asztalo, E., Viragh, M., Ruiter, F., Hofmann, L., Eshui, Collavin, Licio, M. A., Huynen, Z., Asztalo, P., Verstreken, R. J., Rodenburg, J. A., Smeitink, B. B. A., de Vrie, A., Schenck
المصدر: Human Molecular Genetics, 22, 15, pp. 3138-3151
Human Molecular Genetics
Human Molecular Genetics; Vol 22
Human Molecular Genetics, 22, 3138-3151مصطلحات موضوعية: Mitochondrial intermembrane space, genetics/metabolism, Cytochrome-c Oxidase Deficiency, Gene Expression, Cell Cycle Proteins, Mitochondrion, p53 interacting protein, Cytosol, 0302 clinical medicine, Drosophila Proteins, genetics/metabolism, Drosophila melanogaster, Child, Genetics (clinical), Neurons, 0303 health sciences, Gene knockdown, Homozygote, Mitochondrial medicine Energy and redox metabolism [IGMD 8], General Medicine, Mitochondria, Cell biology, Protein Transport, Mitochondrial medicine [IGMD 8], Drosophila melanogaster, mitochondrial fusion, Organ Specificity, Gene Knockdown Techniques, Energy and redox metabolism Mitochondrial medicine [NCMLS 4], Drosophila, Female, Microtubule-Associated Proteins, Biology, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Genetics, Animals, Humans, Learning, Cytochrome c oxidase, Molecular Biology, Loss function, 030304 developmental biology, Pathogenesis and modulation of inflammation Infection and autoimmunity [N4i 1], Molecular biology, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Disease Models, Animal, Mutation, Synapses, biology.protein, DNAJA3, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Chromosomes, Human, Pair 19, Gene Deletion, 030217 neurology & neurosurgery
وصف الملف: STAMPA; Print-Electronic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1408cbe94dde58350101a8488a9639c
http://hdl.handle.net/11368/2673331 -
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المؤلفون: Charles E. Schwartz, Claude Moraine, Michael R. Stratton, Darien Lugtenberg, Ben C.J. Hamel, Jozef Gecz, Astrid R. Oudakker, Hans-Hilger Ropers, Reinhard Ullmann, Ralph Pfundt, Annabel Whibley, Jeroen Knijnenburg, Susanne Kjaergaard, Janneke H M Schuurs-Hoeijmakers, Luiz Zangrande-Vieira, Carla Rosenberg, Jayne Y. Hehir-Kwa, Mariken Ruiter, Fernanda Sarquis Jehee, Joris A. Veltman, Jamel Chelly, Arjan P.M. de Brouwer, Hans van Bokhoven, Guido Froyen, Maria Kirchhoff, F. Lucy Raymond, Tjitske Kleefstra, Angela Maria Vianna-Morgante, Sarina G. Kant, Terry Vrijenhoek
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics Part A, 152A(3), 638-645
American Journal of Medical Genetics. Part A, 152A, 3, pp. 638-45
American Journal of Medical Genetics. Part A, 152A, 638-45مصطلحات موضوعية: Male, RETARDO MENTAL, Genetics and epigenetic pathways of disease [NCMLS 6], Gene Dosage, Non-allelic homologous recombination, Biology, Gene dosage, Cohort Studies, Genomic disorders and inherited multi-system disorders [IGMD 3], mental retardation ZNF630 non-allelic homologous recombination Xp11 zinc finger cluster copy number variation array-cgh gene mutations genome mouse children regions pcr, Gene Duplication, Intellectual Disability, Gene cluster, Gene duplication, Genetics, medicine, Humans, Copy-number variation, Genetics (clinical), Segmental duplication, Recombination, Genetic, Chromosomes, Human, X, Comparative Genomic Hybridization, Breakpoint, Chromosome Mapping, medicine.disease, Pedigree, Repressor Proteins, Developmental disorder, Phenotype, Case-Control Studies, Mental Retardation, X-Linked, Female, Functional Neurogenomics [DCN 2], Gene Deletion
وصف الملف: application/pdf
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المؤلفون: Richard J. Rodenburg, Christa van den Elzen, Baziel G.M. van Engelen, Jan A.M. Smeitink, Marloes H. Siers, E Mariken Ruiter, Frans A. Hol
المصدر: European Journal of Human Genetics, 15, 2, pp. 155-61
European Journal of Human Genetics, 15, 155-61مصطلحات موضوعية: Mitochondrial encephalomyopathy, Male, medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], Mitochondrial disease, DNA Mutational Analysis, Biology, MELAS syndrome, DNA, Mitochondrial, Cohort Studies, Mitochondrial Proteins, Genomic disorders and inherited multi-system disorders [IGMD 3], Atrophy, Gene Frequency, Internal medicine, Cardiac conduction, Genetics, medicine, Humans, Leigh disease, Muscle, Skeletal, Genetics (clinical), Human Movement & Fatigue [NCEBP 10], Electron Transport Complex I, medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Optic Atrophy, Endocrinology, Mitochondrial medicine [IGMD 8], Genetic defects of metabolism [UMCN 5.1], Lactic acidosis, Mutation (genetic algorithm), Mutation, Female, Wolff-Parkinson-White Syndrome, Leigh Disease, Cellular energy metabolism [UMCN 5.3], Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
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المؤلفون: Bert B.A. de Vries, Nicole de Leeuw, Erik A. Sistermans, Harry M J Klinkers, Joris A. Veltman, David A. Koolen, Mariken Ruiter, Rolph Pfundt
المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Clinical Dysmorphology, 15, 3, pp. 133-7
ResearcherID
Ruiter, M, Koolen, D A, Pfundt, R, De Leeuw, N, Klinkers, H M J, Sistermans, E A, Veltman, J A & De Vries, B B A 2006, ' A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation ', Clinical Dysmorphology, vol. 15, no. 3, pp. 133-137 . https://doi.org/10.1097/01.mcd.0000220605.94413.bb
Clinical Dysmorphology, 15(3), 133-137. Lippincott Williams and Wilkins
Clinical Dysmorphology, 15, 133-7مصطلحات موضوعية: Microcephaly, Genetics and epigenetic pathways of disease [NCMLS 6], Nails, Malformed, Deafness, Biology, Quadriplegia, Short stature, Pathology and Forensic Medicine, Fingers, Molecular cytogenetics, Genomic disorders and inherited multi-system disorders [IGMD 3], Translational research [ONCOL 3], Intellectual Disability, Gene duplication, medicine, Humans, Abnormalities, Multiple, Hypertelorism, Child, Genetics (clinical), Chromosome Aberrations, Genetics, Chromosomes, Human, Pair 12, Syndrome, General Medicine, medicine.disease, Hypotonia, Clubfoot, Genetic defects of metabolism [UMCN 5.1], Face, Pediatrics, Perinatology and Child Health, Female, Psychomotor Disorders, Anatomy, medicine.symptom, Psychomotor disorder, Functional Neurogenomics [DCN 2], Comparative genomic hybridization
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c308684e7b8dd998c50a6323e53342e9
https://hdl.handle.net/2066/49646 -
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المؤلفون: E Mariken, Ruiter, Jan, Toorman, Ron, Hochstenbach, Bert B A, de Vries
المصدر: Clinical dysmorphology. 13(2)
مصطلحات موضوعية: Male, Radiography, Mosaicism, Chromosomes, Human, Pair 22, Intellectual Disability, Limb Deformities, Congenital, Humans, Trisomy, Child
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ce0982d80ff441f094baa626b996bdce
https://pubmed.ncbi.nlm.nih.gov/15057126 -
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المؤلفون: Frans C. C. Riemslag, Daniëlle G.M. Bosch, F. Nienke Boonstra, Rob W.J. Collin, Mariken Ruiter, Anna M. Siemiatkowska, Anneke I. den Hollander, Frans P.M. Cremers, Janneke H M Schuurs-Hoeijmakers, Bert B.A. de Vries
المصدر: Jama Ophthalmology, 132, 8, pp. 1002-4
Jama Ophthalmology, 132, 1002-4مصطلحات موضوعية: Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Genetic counseling, Leber Congenital Amaurosis, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Leber congenital amaurosis, medicine.disease, eye diseases, Loss of heterozygosity, Ophthalmology, Atrophy, NMNAT1, Mutation, Mutation (genetic algorithm), medicine, Humans, American population, Nicotinamide-Nucleotide Adenylyltransferase, Allele, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55a370617626b214ff7fc40055be89e9
https://doi.org/10.1001/jamaophthalmol.2014.983 -
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المؤلفون: Pim J. van Dijken, Bert B.A. de Vries, Mariken Ruiter
المصدر: American Journal of Medical Genetics Part A. :344-344
مصطلحات موضوعية: medicine.medical_specialty, Syndrome type, Genetics, medicine, Dysostosis, Biology, medicine.disease, Dermatology, Genetics (clinical)