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المؤلفون: Claus-Eric Ott, Eva Morava, Björn Fischer, Bert Callewaert, Stefan Mundlos, Wolfgang Homann, Claire Schlack, Anna Ficcadenti, Manrico Morroni, Uwe Kornak, Paul Coucke, Phillipe Schröter
المصدر: Molecular Genetics and Metabolism, 112, 310-6
Molecular Genetics and Metabolism, 112, 4, pp. 310-6
Molecular Genetics and Metabolismمصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Arterial tortuosity syndrome, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Copy number analysis, Biology, Biochemistry, Cutis Laxa, Frameshift mutation, Fatal Outcome, Endocrinology, Genetics, medicine, Humans, Missense mutation, RNA, Messenger, Amino Acids, Molecular Biology, Skin, Base Sequence, medicine.diagnostic_test, Point mutation, Homozygote, Infant, Newborn, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Aldehyde Dehydrogenase, Fibroblasts, medicine.disease, Pedigree, Cardiovascular Diseases, Child, Preschool, Skin biopsy, De Barsy syndrome, Female, Gene Deletion, Cutis laxa
وصف الملف: application/pdf
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المؤلفون: Neerja Gupta, Phillipe Schröter, Bernd Wollnik, Madhulika Kabra, Lionel Van Maldergem, Eva Morava, Yun Li, Jaime Moritz Brum, Katherine Lachlan, Diana Johnson, Shubha R. Phadke, David Chitayat, Thatjana Gardeitchik, Zeina Mahayri, Leo G.J. Nijtmans, Marco Castori, Stefan Mundlos, Elaine Fletcher, Ingeborg Barišić, Aikaterini Dimopoulou, Katta M. Girisha, Martina Simandlova, Albert David, Christiane Spaich, Hülya Kayserili, Meenakshi Bhat, Francesco Brancati, Beyhan Tüysüz, Björn Fischer, Claire Schlack, Uwe Kornak
المصدر: Molecular Genetics and Metabolism, 110, 352-61
Molecular Genetics and Metabolism, 110, 3, pp. 352-61مصطلحات موضوعية: Models, Molecular, Pathology, medicine.medical_specialty, Genotype, Protein Conformation, Endocrinology, Diabetes and Metabolism, Nonsense mutation, Biology, Biochemistry, Gerodermia osteodysplastica, Cutis Laxa, Endocrinology, Gene Order, Genetics, medicine, Humans, Missense mutation, AR cutis laxa, Autosomal recessive cutis laxa, PYCR1, proline, mitochondria, segmental progeroid disorders, Molecular Biology, Alleles, Genetic Association Studies, Progeria, Psychomotor retardation, Facies, Exons, Glycostation disorders [IGMD 4], medicine.disease, Phenotype, Mutation, De Barsy syndrome, Pyrroline Carboxylate Reductases, medicine.symptom, Wrinkly skin syndrome, Cutis laxa
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المؤلفون: Madhulika Kabra, Heidemarie Neitzel, Phillipe Schröter, Uwe Kornak, Anna Rajab, Neerja Gupta, Claus-Eric Ott, Björn Fischer, Stefan Mundlos, Reyk Richter, Nishant Verma
المصدر: Bone. 55:292-297
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Histology, Physiology, Ubiquitin-Protein Ligases, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Molecular Sequence Data, Hematopoietic stem cell transplantation, Real-Time Polymerase Chain Reaction, Sepsis, Consanguinity, Skeletal disorder, Osteoclast, Humans, Medicine, Base Sequence, business.industry, Genetic heterogeneity, Homozygote, Infant, Newborn, Bone marrow failure, Infant, Membrane Proteins, Increased Bone Density, medicine.disease, Pedigree, medicine.anatomical_structure, Osteopetrosis, Female, business, Gene Deletion, Infantile malignant osteopetrosis