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المؤلفون: Zdenek Sedlacek, Drahuse Novotna, Zuzana Slamova, Zuzana Zemanova, Mana M. Mehrjouy, Tatana Marikova, Lusine Nazaryan-Petersen, Zdenka Vlckova, Miroslava Hancarova, Jana Drabova, Mads Bak, Niels Tommerup, Marketa Vlckova
المصدر: Human mutation. 39(5)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, DNA Repair, DNA repair, Karyotype, Chromosomal translocation, Biology, Germline, 03 medical and health sciences, symbols.namesake, Genetics, Chromosomes, Human, Humans, Genetics (clinical), Sanger sequencing, Whole genome sequencing, Chromothripsis, Base Sequence, Breakpoint, Infant, Newborn, Chromosome, Infant, DNA, 030104 developmental biology, Germ Cells, Child, Preschool, symbols
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2
المؤلفون: Ants Kurg, Katrin Männik, Marketa Vlckova, Monika Koudova, Zdenek Sedlacek, Zuzana Slamova, Renata Alanova, Miroslava Hancarova, Jana Drabova
المصدر: Twin Research and Human Genetics
مصطلحات موضوعية: Adult, Male, Monozygotic twin, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Intellectual Disability, medicine, Humans, Allele, Genetics (clinical), Genetics, Haplotype, Obstetrics and Gynecology, Twins, Monozygotic, Microdeletion syndrome, medicine.disease, Smith–Magenis syndrome, Twin study, 17q21.31 microdeletion syndrome, Haplotypes, Pediatrics, Perinatology and Child Health, Female, Chromosome Deletion, Smith-Magenis Syndrome, Chromosomes, Human, Pair 17
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المؤلفون: Lucie Tosca, Corinne Metay, Petra Dusatkova, Audrey Briand-Suleau, Gérard Tachdjian, Zdenek Sedlacek, Philippe Labrune, Zuzana Slamova, Jan Lebl, Elsa Zemankova, Sophie Brisset, Zdenek Sumnik, Michel Goossens, Martina Simandlova, Karen Milcent
المساهمون: Service d'histologie, embryologie et cytogénétique [Béclère], Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Department of Biology and Medical Genetics, Charles University [Prague] (CU)-University Hospital Motol [Prague], Department of Pediatrics, Service de Biochimie-Génétique [Béclère], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de pédiatrie [Béclère], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Modèles de Cellules Souches Malignes et Thérapeutiques, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Genetic and Pediatric Ambulance, This work was supported by Direction de l'Hospitalisation et de l'Organisation des Soins, grants NT13692 and DRO UH Motol 00064203 from the Czech Ministry of Health, and CZ.2.16/3.1.00/24022., BMC, Ed., AP-HP - Hôpital Antoine Béclère [Clamart], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11), Charles University 2nd Faculty of Medicine-University Hospital Motol [Prague], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10
المصدر: Molecular Cytogenetics
Molecular Cytogenetics, BioMed Central, 2014, 7 (1), pp.17. ⟨10.1186/1755-8166-7-17⟩مصطلحات موضوعية: medicine.medical_specialty, Hearing loss, Growth hormone therapy, Case Report, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, [SDV.GEN] Life Sciences [q-bio]/Genetics, Biochemistry, 14q22q23 microdeletion, Growth hormone deficiency, Genotype-phenotype distinction, Anterior pituitary, Internal medicine, medicine, Genetics, Endocrine system, Genetics(clinical), Anophthalmia, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Molecular Biology, Genetics (clinical), Biochemistry, medical, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Biochemistry (medical), Cytogenetics, medicine.disease, Conductive hearing loss, Endocrinology, medicine.anatomical_structure, Pituitary, Molecular Medicine, medicine.symptom, business, OTX2
وصف الملف: application/pdf