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    Wyświetlanie 1-13 z 13
    Tytuł:
    Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.
    Autorzy:
    Lumaka A; Human Genetic Laboratory, GIGA Institute, University of Liège, 4000 Liège, Belgium.; Center for Human Genetics, Centre Hospitalier Universitaire, 4032 Liège, Belgium.
    Fasquelle C; Center for Human Genetics, Centre Hospitalier Universitaire, 4032 Liège, Belgium.
    Debray FG; Center for Human Genetics, Centre Hospitalier Universitaire, 4032 Liège, Belgium.
    Alkan S; Center for Human Genetics, Centre Hospitalier Universitaire, 4032 Liège, Belgium.; Neuropediatric Division, CHU de Liège-CHR de la Citadelle, University of Liège, 4000 Liège, Belgium.
    Jacquinet A; Center for Human Genetics, Centre Hospitalier Universitaire, 4032 Liège, Belgium.
    Harvengt J; Center for Human Genetics, Centre Hospitalier Universitaire, 4032 Liège, Belgium.
    Boemer F; Center for Human Genetics, Centre Hospitalier Universitaire, 4032 Liège, Belgium.
    Mulder A; Department of Pediatrics, Division of Pediatric Critical Care Medicine, CHC Mont-Légia, 4000 Liège, Belgium.
    Vaessen S; Neuropediatric Division, CHU de Liège-CHR de la Citadelle, University of Liège, 4000 Liège, Belgium.
    Viellevoye R; Neonatology Division, CHU de Liège-CHR de la Citadelle, University of Liège, 4000 Liège, Belgium.
    Palmeira L; Center for Human Genetics, Centre Hospitalier Universitaire, 4032 Liège, Belgium.
    Charloteaux B; Center for Human Genetics, Centre Hospitalier Universitaire, 4032 Liège, Belgium.
    Brysse A; Center for Human Genetics, Centre Hospitalier Universitaire, 4032 Liège, Belgium.
    Bulk S; Center for Human Genetics, Centre Hospitalier Universitaire, 4032 Liège, Belgium.
    Rigo V; Neonatology Division, CHU de Liège-CHR de la Citadelle, University of Liège, 4000 Liège, Belgium.
    Bours V; Human Genetic Laboratory, GIGA Institute, University of Liège, 4000 Liège, Belgium.; Center for Human Genetics, Centre Hospitalier Universitaire, 4032 Liège, Belgium.
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    Źródło:
    International journal of molecular sciences [Int J Mol Sci] 2023 Feb 16; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 16.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Critical Illness*
    Off-Label Use*
    Infant, Newborn ; Humans ; Child ; Belgium ; Whole Genome Sequencing/methods ; Intensive Care Units, Pediatric
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy.
    Autorzy:
    Boemer F; Biochemical Genetics Laboratory, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
    Josse C; Department of Medical Oncology, CHU of Liege, University of Liege, 4000 Liege, Belgium.; Laboratory of Human Genetics, Department of Biomedical and Preclinical Sciences, Groupe Interdisciplinaire de Génoprotéomique Appliquée-Recherche (GIGA-R), University of Liege, 4000 Liege, Belgium.
    Luis G; Biochemical Genetics Laboratory, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
    Di Valentin E; Viral Vector Platform, Groupe Interdisciplinaire de Génoprotéomique Appliquée-Recherche (GIGA-R), University of Liege, 4000 Liege, Belgium.
    Thiry J; Department of Medical Oncology, CHU of Liege, University of Liege, 4000 Liege, Belgium.
    Cello C; Biochemical Genetics Laboratory, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
    Caberg JH; Molecular Genetics Laboratory, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
    Dadoumont C; Department of Pediatrics, CHC MontLégia, 4000 Liege, Belgium.
    Harvengt J; Center of Genetics, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
    Lumaka A; Laboratory of Human Genetics, Department of Biomedical and Preclinical Sciences, Groupe Interdisciplinaire de Génoprotéomique Appliquée-Recherche (GIGA-R), University of Liege, 4000 Liege, Belgium.
    Bours V; Center of Genetics, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
    Debray FG; Metabolic Unit, Department of Human Genetics, CHU of Liege, University of Liege, 4000 Liege, Belgium.
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    Źródło:
    International journal of molecular sciences [Int J Mol Sci] 2022 Feb 18; Vol. 23 (4). Date of Electronic Publication: 2022 Feb 18.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Amino Acids, Branched-Chain/*genetics
    Brain/*pathology
    Brain Diseases/*genetics
    Epilepsy, Generalized/*genetics
    Loss of Function Mutation/*genetics
    3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/genetics ; Amino Acid Sequence ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/pathology ; Brain Diseases/pathology ; Cell Line ; Female ; HEK293 Cells ; Humans ; Male ; Phosphorylation/genetics ; Retrospective Studies
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
    Autorzy:
    Duerinckx S; Institut de Recherche Interdisciplinaire en Biologie Humaine et moléculaire, Université Libre de Bruxelles, Brussels, Belgium.
    Désir J; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
    Perazzolo C; Institut de Recherche Interdisciplinaire en Biologie Humaine et moléculaire, Université Libre de Bruxelles, Brussels, Belgium.
    Badoer C; Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.
    Jacquemin V; Institut de Recherche Interdisciplinaire en Biologie Humaine et moléculaire, Université Libre de Bruxelles, Brussels, Belgium.
    Soblet J; Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels, Belgium.
    Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
    Tunca Y; Department of Medical Genetics, Gülhane Faculty of Medicine & Gülhane Training and Research Hospital, University of Health Sciences Turkey, Ankara, Turkey.
    Blaumeiser B; University and University Hospital of Antwerp, Antwerp, Belgium.
    Ceulemans B; University and University Hospital of Antwerp, Antwerp, Belgium.
    Courtens W; Centre Hospitalier Universitaire de Liège, Liège, Belgium.
    Debray FG; Centre Hospitalier Universitaire de Liège, Liège, Belgium.
    Destree A; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
    Devriendt K; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
    Jansen A; Universitair Ziekenhuis Brussel (UZ Brussel), Centrum Medische Genetica, Universiteit Brussel (VUB), Brussels, Belgium.
    Keymolen K; Universitair Ziekenhuis Brussel (UZ Brussel), Centrum Medische Genetica, Universiteit Brussel (VUB), Brussels, Belgium.
    Lederer D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
    Loeys B; University and University Hospital of Antwerp, Antwerp, Belgium.
    Meuwissen M; University and University Hospital of Antwerp, Antwerp, Belgium.
    Moortgat S; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
    Mortier G; University and University Hospital of Antwerp, Antwerp, Belgium.
    Nassogne MC; Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
    Sekhara T; Centre Hospitalier CHIREC, Brussels, Belgium.
    Van Coster R; Universitair Ziekenhuis Gent, Ghent, Belgium.
    Van Den Ende J; University and University Hospital of Antwerp, Antwerp, Belgium.
    Van der Aa N; University and University Hospital of Antwerp, Antwerp, Belgium.
    Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
    Vanakker O; Universitair Ziekenhuis Gent, Ghent, Belgium.
    Verhelst H; Universitair Ziekenhuis Gent, Ghent, Belgium.
    Vilain C; Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.; Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels, Belgium.
    Weckhuysen S; University and University Hospital of Antwerp, Antwerp, Belgium.
    Passemard S; Department of Genetics, APHP, Robert Debré University Hospital, Paris, France.
    Verloes A; Department of Genetics, APHP, Robert Debré University Hospital, Paris, France.
    Aeby A; Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels, Belgium.
    Deconinck N; Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels, Belgium.
    Van Bogaert P; Department of Pediatrics, Centre Hospitalier Universitaire d'Angers, France.
    Pirson I; Institut de Recherche Interdisciplinaire en Biologie Humaine et moléculaire, Université Libre de Bruxelles, Brussels, Belgium.
    Abramowicz M; Institut de Recherche Interdisciplinaire en Biologie Humaine et moléculaire, Université Libre de Bruxelles, Brussels, Belgium.; Department of Genetic Medicine and Development, University of Geneva, Genève, Switzerland.
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    Źródło:
    Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Sep; Vol. 9 (9), pp. e1768. Date of Electronic Publication: 2021 Aug 17.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Consanguinity*
    Genotype*
    Phenotype*
    Epilepsy/*genetics
    Microcephaly/*genetics
    Cell Cycle Proteins/genetics ; Child ; Epilepsy/epidemiology ; Epilepsy/pathology ; Female ; Gene Frequency ; Genetic Heterogeneity ; Humans ; Incidence ; Male ; Microcephaly/complications ; Microcephaly/pathology ; Nerve Tissue Proteins/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.
    Autorzy:
    Van Maldergem L; Centre de génétique humaine Université de Franche-Comté Besançon France; Metabolic Unit Centre of Human Genetics University Hospital Liège Belgium.
    Besse A; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
    De Paepe B; Department of Pediatrics Division of Child Neurology & Metabolism Ghent University Hospital Belgium.
    Blakely EL; Wellcome Trust Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
    Appadurai V; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
    Humble MM; Mitochondrial DNA Replication Group National Institute of Environmental Health Sciences Durham North Carolina.
    Piard J; Centre de génétique humaine Université de Franche-Comté Besançon France.
    Craig K; Wellcome Trust Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
    He L; Wellcome Trust Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
    Hella P; Department of Neurology Sambre and Meuse Regional Hospital Namur Belgium.
    Debray FG; Metabolic Unit Centre of Human Genetics University Hospital Liège Belgium.
    Martin JJ; Born-Bunge Foundation University of Antwerp Belgium.
    Gaussen M; Inserm U1127 CNRS UMR 7225 Sorbonne Universités UPMC Paris France; Institut du Cerveau et de la Moelle épinière Hopital Pitié-Salpêtrière Paris France; Ecole Pratique des Hautes Etudes PSL Université Laboratoire de neurogénétique F-75013 Paris France.
    Laloux P; Université catholique de Louvain CHU UCL Namur Department of Neurology B5530 Yvoir Belgium; UCL Institute of Neuroscience (IoNS) B1200 Brussels Belgium.
    Stevanin G; Inserm U1127 CNRS UMR 7225 Sorbonne Universités UPMC Paris France; Institut du Cerveau et de la Moelle épinière Hopital Pitié-Salpêtrière Paris France; Ecole Pratique des Hautes Etudes PSL Université Laboratoire de neurogénétique F-75013 Paris France.
    Van Coster R; Department of Pediatrics Division of Child Neurology & Metabolism Ghent University Hospital Belgium.
    Taylor RW; Wellcome Trust Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
    Copeland WC; Mitochondrial DNA Replication Group National Institute of Environmental Health Sciences Durham North Carolina.
    Mormont E; Université catholique de Louvain CHU UCL Namur Department of Neurology B5530 Yvoir Belgium; UCL Institute of Neuroscience (IoNS) B1200 Brussels Belgium.
    Bonnen PE; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
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    Źródło:
    Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2016 Nov 16; Vol. 4 (1), pp. 4-14. Date of Electronic Publication: 2016 Nov 16 (Print Publication: 2017).
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
    Autorzy:
    Simons C
    Rash LD
    Crawford J
    Ma L
    Cristofori-Armstrong B
    Miller D
    Ru K
    Baillie GJ
    Alanay Y
    Jacquinet A
    Debray FG
    Verloes A
    Shen J
    Yesil G
    Guler S
    Yuksel A
    Cleary JG
    Grimmond SM
    McGaughran J
    King GF
    Gabbett MT
    Taft RJ
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    Źródło:
    Nature genetics [Nat Genet] 2015 Mar; Vol. 47 (3), pp. 304.
    Typ publikacji:
    Published Erratum
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
    Autorzy:
    Simons C; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Rash LD; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Crawford J; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Ma L; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Cristofori-Armstrong B; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Miller D; 1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
    Ru K; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Baillie GJ; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Alanay Y; Pediatric Genetics, Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey.
    Jacquinet A; Center for Human Genetics, Centre Hospitalier Universitaire and University of Liège, Liège, Belgium.
    Debray FG; Center for Human Genetics, Centre Hospitalier Universitaire and University of Liège, Liège, Belgium.
    Verloes A; 1] Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Robert Debré Hospital, Paris, France. [2] INSERM UMR 1141, Robert Debré Hospital, Paris, France.
    Shen J; Medical Genetics and Metabolism, Children's Hospital Central California, Madera, California, USA.
    Yesil G; Department of Medical Genetics, Bezmialem Vakif University School of Medicine, Istanbul, Turkey.
    Guler S; Department of Medical Genetics, Bezmialem Vakif University School of Medicine, Istanbul, Turkey.
    Yuksel A; Department of Medical Genetics, Bezmialem Vakif University School of Medicine, Istanbul, Turkey.
    Cleary JG; Real Time Genomics, Ltd., Hamilton, New Zealand.
    Grimmond SM; 1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Wolfson Wohl Cancer Research Centre, Institute for Cancer Sciences, University of Glasgow, Glasgow, UK.
    McGaughran J; 1] Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia. [2] School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
    King GF; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.
    Gabbett MT; 1] Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia. [2] School of Medicine, Griffith University, Gold Coast, Queensland, Australia.
    Taft RJ; 1] Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia. [2] Department of Integrated Systems Biology, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [3] Department of Pediatrics, School of Medicine and Health Sciences, George Washington University, Washington, DC, USA. [4] Illumina, Inc., San Diego, California, USA.
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    Źródło:
    Nature genetics [Nat Genet] 2015 Jan; Vol. 47 (1), pp. 73-7. Date of Electronic Publication: 2014 Nov 24.
    Typ publikacji:
    Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation, Missense*
    Epilepsy/*genetics
    Ether-A-Go-Go Potassium Channels/*genetics
    Hallux/*abnormalities
    Intellectual Disability/*genetics
    Nails, Malformed/*genetics
    Thumb/*abnormalities
    Amino Acid Sequence ; Animals ; Child ; Child, Preschool ; Conserved Sequence ; Ether-A-Go-Go Potassium Channels/chemistry ; Ether-A-Go-Go Potassium Channels/physiology ; Exons/genetics ; Female ; HEK293 Cells ; Humans ; Infant ; Male ; Molecular Sequence Data ; Mosaicism ; Oocytes ; Protein Conformation ; Recombinant Fusion Proteins/metabolism ; Sequence Homology, Amino Acid ; Xenopus laevis
    SCR Disease Name:
    Temple-Baraitser Syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
    Autorzy:
    El Chehadeh-Djebbar S; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, CHU de Dijon, France.
    Blair E
    Holder-Espinasse M
    Moncla A
    Frances AM
    Rio M
    Debray FG
    Rump P
    Masurel-Paulet A
    Gigot N
    Callier P
    Duplomb L
    Aral B
    Huet F
    Thauvin-Robinet C
    Faivre L
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    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Jul; Vol. 21 (7), pp. 736-42. Date of Electronic Publication: 2012 Nov 28.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Face/*physiopathology
    Intellectual Disability/*diagnosis
    Intellectual Disability/*genetics
    Microcephaly/*diagnosis
    Microcephaly/*genetics
    Muscle Hypotonia/*diagnosis
    Muscle Hypotonia/*genetics
    Myopia/*diagnosis
    Myopia/*genetics
    Obesity/*diagnosis
    Obesity/*genetics
    Vesicular Transport Proteins/*genetics
    Abnormalities, Multiple ; Child ; Child, Preschool ; Developmental Disabilities/diagnosis ; Developmental Disabilities/genetics ; Developmental Disabilities/physiopathology ; Early Diagnosis ; Female ; Fingers/abnormalities ; Fingers/physiopathology ; Humans ; Intellectual Disability/physiopathology ; Male ; Microcephaly/physiopathology ; Muscle Hypotonia/physiopathology ; Mutation ; Myopia/physiopathology ; Obesity/physiopathology ; Phenotype ; Retinal Degeneration
    SCR Disease Name:
    Cohen syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
    Autorzy:
    Hilton E; Academic Unit of Medical Genetics, St Mary's Hospital, Manchester, UK.
    Johnston J
    Whalen S
    Okamoto N
    Hatsukawa Y
    Nishio J
    Kohara H
    Hirano Y
    Mizuno S
    Torii C
    Kosaki K
    Manouvrier S
    Boute O
    Perveen R
    Law C
    Moore A
    Fitzpatrick D
    Lemke J
    Fellmann F
    Debray FG
    Dastot-Le-Moal F
    Gerard M
    Martin J
    Bitoun P
    Goossens M
    Verloes A
    Schinzel A
    Bartholdi D
    Bardakjian T
    Hay B
    Jenny K
    Johnston K
    Lyons M
    Belmont JW
    Biesecker LG
    Giurgea I
    Black G
    Pokaż więcej
    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2009 Oct; Vol. 17 (10), pp. 1325-35. Date of Electronic Publication: 2009 Apr 15.
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Eye Abnormalities/*genetics
    Heart Diseases/*genetics
    Intellectual Disability/*genetics
    Microphthalmos/*genetics
    Proto-Oncogene Proteins/*genetics
    Repressor Proteins/*genetics
    Adolescent ; Adult ; Aged ; Alleles ; Animals ; Child ; Child, Preschool ; Cohort Studies ; Eye Abnormalities/complications ; Female ; Genetic Diseases, X-Linked/complications ; Genetic Diseases, X-Linked/genetics ; Heart Diseases/complications ; Humans ; Infant, Newborn ; Intellectual Disability/complications ; Male ; Microphthalmos/complications ; Middle Aged ; Syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-13 z 13

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