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Wyszukujesz frazę ""de Vries BBA"" wg kryterium: Autor


Tytuł:
The Genetics of Intellectual Disability.
Autorzy:
Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
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Źródło:
Brain sciences [Brain Sci] 2023 Jan 30; Vol. 13 (2). Date of Electronic Publication: 2023 Jan 30.
Typ publikacji:
Journal Article; Review
Czasopismo naukowe
Tytuł:
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Autorzy:
Gillentine MA; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
Wang T; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.
Rosenfeld J; Baylor Genetics Laboratories, Houston, TX, USA.; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Liu P; Baylor Genetics Laboratories, Houston, TX, USA.
Guo H; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA.; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Kim CN; Department of Anatomy, University of California, San Francisco, CA, USA.; Department of Psychiatry, University of California, San Francisco, CA, USA.; Weill Institute for Neurosciences, University of California at San Francisco, San Francisco, CA, USA.; The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA, USA.
De Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Nordenskjold M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Kvarnung M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Gecz J; School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.
Iascone M; Laboratorio di Genetica Medica - ASST Papa Giovanni XXIII, Bergamo, Italy.
Cereda A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Scatigno A; Department of Pediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
Maitz S; Genetic Unit, Department of Pediatrics, Fondazione MBBM S. Gerardo Hospital, Monza, Italy.
Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.
Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Schuhmann S; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Wiesener A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Pepper M; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.
Panjwani H; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.
Torti E; GeneDX, Gaithersburg, MD, USA.
Abid F; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.
Anselm I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Atwal P; The Atwal Clinic: Genomic & Personalized Medicine, Jacksonville, FL, USA.
Bacino CA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Bhat G; Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA.
Cobian K; Department of Pediatrics, Section of Genetics, University of Illinois at Chicago, Chicago, IL, USA.
Bird LM; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA, USA.
Friedman J; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA, USA.
Wright MS; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Callewaert B; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium.
Petit F; Clinique de Génétique, Hôpital Jeanne de Flandre, Bâtiment Modulaire, CHU, 59037, Lille Cedex, France.
Mathieu S; Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France.
Afenjar A; Sorbonne Universités, Centre de Référence déficiences intellectuelles de causes rares, département de génétique et embryologie médicale, Hôpital Trousseau, AP-HP, Paris, France.
Christensen CK; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.
White KM; Department of Medical and Molecular Genetics, IU Health, Indianapolis, IN, USA.
Elpeleg O; Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
Berger I; Pediatric Neurology, Assuta-Ashdod University Hospital, Ashdod, Israel.; Health Sciences, Ben-Gurion University of the Negev, Beersheba, Israel.
Espineli EJ; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.
Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Hansen LK; H C Andersen Chilldrens Hospital, Odense University Hospital, Odense, Denmark.
Feyma T; Gillette Children's Specialty Healthcare, Saint Paul, MN, USA.
Hughes S; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.
Thiffault I; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, MO, USA.
Sullivan B; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.
Yan S; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA.
Keller K; Oregon Health & Science University, Corvallis, OR, USA.
Keren B; Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France.
Mignot C; Department of Genetics, Hópital Pitié-Salpêtrière, Paris, France.
Kooy F; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Meuwissen M; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Basinger A; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Kukolich M; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Philips M; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Ortega L; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Drummond-Borg M; Genetics Department, Cook Children's Hospital, Fort Worth, TX, USA.
Lauridsen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Sorensen K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; BC Children's Hospital and BC Women's Hospital, Vancouver, BC, Canada.
Lopez-Rangel E; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; Division of Developmental Pediatrics, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.; Sunny Hill Health Centre for Children, Vancouver, BC, Canada.
Levy P; Department of Pediatrics, The Children's Hospital at Montefiore, Bronx, NY, USA.
Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Lotze T; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.
Madan-Khetarpal S; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.; UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Sebastian J; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
Vento J; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
Vats D; Kaiser Permanente Southern California, Los Angeles, CA, USA.
Benman LM; The Permanente Medical Group, Oakland, CA, USA.
Mckee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA.
Muss C; Al Dupont Hospital for Children, Wilmington, DE, USA.
Pappas J; NYU Grossman School of Medicine, Department of Pediatrics, Clinical Genetic Services, New York, NY, USA.
Peeters H; Center for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium.
Romano C; Oasi Research Institute-IRCCS, Troina, Italy.
Elia M; Oasi Research Institute-IRCCS, Troina, Italy.
Galesi O; Oasi Research Institute-IRCCS, Troina, Italy.
Simon MEH; Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands.
van Gassen KLI; Department of Genetics, University Medical Center, Utrecht University, Utrecht, The Netherlands.
Simpson K; Rare Disease Institute, Children's National Health System, Washington, DC, USA.
Stratton R; Department of Genetics, Driscoll Children's Hospital, Corpus Christi, TX, USA.
Syed S; Department of Pediatric Gastroenterology, Driscoll Children's Hospital, Corpus Christi, TX, USA.
Thevenon J; Àrea de Genètica Clínica i Molecular, Hospital Vall d'Hebrón, Barcelona, Spain.
Palafoll IV; Centre de référence Anomalies du développement, CHU Grenoble-Alpes, Grenoble, France.
Vitobello A; UF Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne and INSERM UMR1231 GAD, Université de Bourgogne Franche-Comté, F-21000, Dijon, France.; INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.
Bournez M; Centre de Référence Maladies Rares « déficience intellectuelle », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France.
Faivre L; INSERM UMR 1231 Génétique des Anomalies du Développement, Université Bourgogne Franche-Comté, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs »​ Université Bourgogne Franche-Comté, Dijon, France.
Xia K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Earl RK; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Nowakowski T; Department of Anatomy, University of California, San Francisco, CA, USA.; Department of Psychiatry, University of California, San Francisco, CA, USA.; Weill Institute for Neurosciences, University of California at San Francisco, San Francisco, CA, USA.; The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA, USA.
Bernier RA; Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Seattle Children's Autism Center, Seattle, WA, USA.; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, 3720 15th Ave NE S413A, Box 355065, Seattle, WA, 981095-5065, USA. .; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. .
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Corporate Authors:
CAUSES Study
SPARK Consortium
Źródło:
Genome medicine [Genome Med] 2021 Apr 19; Vol. 13 (1), pp. 63. Date of Electronic Publication: 2021 Apr 19.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Heterogeneous-Nuclear Ribonucleoproteins/*genetics
Mutation/*genetics
Neurodevelopmental Disorders/*genetics
Brain/metabolism ; DNA Copy Number Variations/genetics ; Gene Expression Regulation ; Genetic Association Studies ; Genetic Variation ; Heterogeneous-Nuclear Ribonucleoproteins/metabolism ; Humans ; Inheritance Patterns/genetics ; Mutation, Missense/genetics ; Phenotype ; RNA Processing, Post-Transcriptional/genetics ; Single-Cell Analysis
Czasopismo naukowe
Tytuł:
A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.
Autorzy:
Polla DL; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; CAPES Foundation, Ministry of Education of Brazil, Brasília, Brazil.
Saunders HR; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Oct; Vol. 7 (10), pp. e00861. Date of Electronic Publication: 2019 Aug 15.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Adaptor Proteins, Signal Transducing/*genetics
Intellectual Disability/*diagnosis
Seizures/*diagnosis
Brain/diagnostic imaging ; Child ; Codon, Nonsense ; Female ; Humans ; Intellectual Disability/genetics ; Magnetic Resonance Imaging ; Seizures/genetics ; Exome Sequencing ; X Chromosome Inactivation
Czasopismo naukowe
Tytuł:
Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.
Autorzy:
Arbogast T; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France.
Iacono G; Department of Molecular Biology, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, The Netherlands.
Chevalier C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France.
Afinowi NO; Synome Ltd, Moneta Building, Babraham Research Campus, Cambridge, United Kingdom.
Houbaert X; Interdisciplinary Institute for Neuroscience, CNRS, UMR5297, Bordeaux University, Bordeaux, France.
van Eede MC; Mouse Imaging Center (MICe), The Hospital for Sick Children Toronto, Toronto, Ontario, Canada.
Laliberte C; Mouse Imaging Center (MICe), The Hospital for Sick Children Toronto, Toronto, Ontario, Canada.
Birling MC; CELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden, France.
Linda K; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.
Meziane H; CELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden, France.
Selloum M; CELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden, France.
Sorg T; CELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden, France.
Nadif Kasri N; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.
Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.
Stunnenberg HG; Department of Molecular Biology, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, The Netherlands.
Henkelman RM; Mouse Imaging Center (MICe), The Hospital for Sick Children Toronto, Toronto, Ontario, Canada.
Kopanitsa M; Synome Ltd, Moneta Building, Babraham Research Campus, Cambridge, United Kingdom.
Humeau Y; Interdisciplinary Institute for Neuroscience, CNRS, UMR5297, Bordeaux University, Bordeaux, France.
De Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.
Herault Y; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université de Strasbourg, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France.; CELPHEDIA, PHENOMIN, Institut Clinique de la Souris (ICS), CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden, France.
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Źródło:
PLoS genetics [PLoS Genet] 2017 Jul 13; Vol. 13 (7), pp. e1006886. Date of Electronic Publication: 2017 Jul 13 (Print Publication: 2017).
Typ publikacji:
Journal Article
MeSH Terms:
Cognition*
Abnormalities, Multiple/*genetics
Chromosome Duplication/*genetics
Intellectual Disability/*genetics
Nuclear Proteins/*genetics
Animals ; Body Weight ; Brain/metabolism ; Brain/ultrastructure ; Chromosome Deletion ; Chromosome Structures/genetics ; Chromosome Structures/metabolism ; Chromosomes, Human, Pair 17/genetics ; DNA Copy Number Variations ; Disease Models, Animal ; Epigenesis, Genetic ; Female ; Gene Deletion ; Gene Rearrangement ; Hippocampus/metabolism ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Neuronal Plasticity/genetics ; Nuclear Proteins/metabolism ; Synaptic Transmission/genetics ; Up-Regulation
SCR Disease Name:
Chromosome 17q21.31 Deletion Syndrome
Czasopismo naukowe
Tytuł:
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.
Autorzy:
Koolen DA; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands.
Herbergs J; Department of Clinical Genetics, Academic Hospital, Maastricht, The Netherlands.
Veltman JA; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands.
Pfundt R; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands.
van Bokhoven H; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands.
Stroink H; Department of Neurology, St. Elisabeth and TweeSteden Hospital, Tilburg, The Netherlands.
Sistermans EA; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands.
Brunner HG; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands.
Geurts van Kessel A; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands.
de Vries BBA; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands. .
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Źródło:
Journal of human genetics [J Hum Genet] 2006; Vol. 51 (8), pp. 721-726. Date of Electronic Publication: 2006 Jul 25.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Duplication*
Chromosomes, Human, Pair 5/*genetics
Genes, Duplicate/*genetics
Genetic Predisposition to Disease/*genetics
Holoprosencephaly/*genetics
Polydactyly/*genetics
beta-Transducin Repeat-Containing Proteins/*genetics
Adolescent ; Adult ; Genome, Human/genetics ; Humans ; Magnetic Resonance Imaging ; Male ; Nucleic Acid Hybridization ; Nucleophosmin ; Ubiquitin-Protein Ligases
Czasopismo naukowe

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