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1
المؤلفون: Věra Hořínová, Jana Paděrová, Miroslava Balascakova, Marketa Havlovicova, Gabriela Křečková, Jana Pospíšilová, Arpád Boday, Sarka Vejvalkova, Eva Kantorová, Jana Čopíková, Pavel Votýpka, Radka Kremlikova Pourova, Martina Simandlova, Petra Liskova, Jana Štěpánková, Michaela Zelinová, Marek Turnovec, Anna Uhrova Meszarosova, Věra Románková
المصدر: Annals of Human Genetics. 84:380-392
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Hearing Loss, Sensorineural, Ocular Pathology, DNA Mutational Analysis, Collagen Type XI, Young Adult, 03 medical and health sciences, Midface retrusion, Genetics, medicine, Humans, Stickler syndrome, Child, Connective Tissue Diseases, Collagen Type II, Marshall syndrome, Gene, Genetics (clinical), Czech Republic, 030304 developmental biology, 0303 health sciences, business.industry, Arthritis, 030305 genetics & heredity, Retinal Detachment, Infant, Retinal detachment, Progressive sensorineural hearing impairment, Middle Aged, medicine.disease, Phenotype, Pedigree, Child, Preschool, Female, business
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2
المؤلفون: Pavel Kuthan, Andrea L Vincent, Anna Krepelova, Martina Simandlova, Marketa Vlckova, Petra Liskova
المصدر: Clinical & Experimental Ophthalmology. 44:757-762
مصطلحات موضوعية: 0301 basic medicine, Proband, Genetics, Sanger sequencing, business.industry, Pedigree chart, 030105 genetics & heredity, medicine.disease, Blepharophimosis, Premature ovarian failure, 03 medical and health sciences, Ophthalmology, symbols.namesake, 030104 developmental biology, Ptosis, DNA Mutational Analysis, medicine, symbols, medicine.symptom, Family history, business
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3
المؤلفون: Marcela Malíková, Alena Puchmajerová, Jan Geryk, Marketa Havlovicova, Sarka Vejvalkova, Anna Křepelová, Marketa Vlckova, Radka Kremlikova Pourova, N. Ptáková, Aleš Maver, M. Šenkeříková, Martina Simandlova, Milan Macek, Jana Drabova, A. Holubová, Jana Paděrová
المصدر: Clinical Genetics. 90:230-237
مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Genetics, Disease, Biology, medicine.disease, Phenotype, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, Gene duplication, symbols, medicine, Copy-number variation, Multiplex ligation-dependent probe amplification, Gene, Kabuki syndrome, Genetics (clinical)
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4
المؤلفون: Juliette, Piard, James, Lespinasse, Marketa, Vlckova, Martin A, Mensah, Sorin, Iurian, Martina, Simandlova, Marcela, Malikova, Oliver, Bartsch, Massimiliano, Rossi, Marion, Lenoir, Frédérique, Nugues, Stefan, Mundlos, Uwe, Kornak, Philip, Stanier, Sérgio B, Sousa, Lionel, Van Maldergem
المصدر: American Journal of Medical Genetics. Part a
مصطلحات موضوعية: Adult, Male, PTDSS1, Clinical Report, hyperostotic skeletal dysplasia, Genotype, Nitrogenous Group Transferases, Facies, cutis laxa, Exons, Hyperostosis, Clinical Reports, Lenz–Majewski syndrome, Radiography, Phenotype, Child, Preschool, Mutation, Humans, Female, Child, Alleles, Genetic Association Studies
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5
المؤلفون: Mina Ryten, Sérgio B. Sousa, Richard H Scott, Estelle Chanudet, Glenn Anderson, Lionel Van Maldergem, Dagan Jenkins, Philip L. Beales, Krystyna H. Chrzanowska, James Docker, Jorge M. Saraiva, Philip Stanier, Gudrun E. Moore, Miho Ishida, Angela Barnicoat, Joaquim Sá, Martina Simandlova, Duangrurdee Wattanasirichaigoon, Guergana Tasseva, Jean E. Vance, Alistair Calder
المصدر: Nature Genetics. 46:70-76
مصطلحات موضوعية: Male, Fosfatidilserinas, Embryo, Nonmammalian, Adolescent, Nitrogenous Group Transferases, Molecular Sequence Data, Dwarfism, Phosphatidylserines, Biology, medicine.disease_cause, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Genetics, medicine, Animals, Humans, Missense mutation, Abnormalities, Multiple, Child, Gene, Cells, Cultured, Zebrafish, 030304 developmental biology, Transferases de Grupos Nitrogenados, Phosphatidylethanolamine, 0303 health sciences, Mutation, Deficiência Intelectual, Syndrome, Phosphatidylserine, Fibroblasts, Hyperostosis, medicine.disease, 3. Good health, chemistry, Craniotubular Hyperostosis, Female, Anomalias Congénitas Múltiplas, 030217 neurology & neurosurgery, Cutis laxa
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6
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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7
المؤلفون: Martina Simandlova, Ants Kurg, Jana Drabova, Katrin Männik, Miroslava Hancarova, Zdenek Sedlacek
المصدر: American Journal of Medical Genetics Part A; Vol 161
American Journal of Medical Genetics Part Aمصطلحات موضوعية: Microcephaly, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Copy-number variation, Allele, Child, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Facies, Nuclear Proteins, Syndrome, Microdeletion syndrome, medicine.disease, Proto-Oncogene Proteins c-rel, 3. Good health, Repressor Proteins, Chromosomes, Human, Pair 2, Autism, Female, Chromosome Deletion, Carrier Proteins, 030217 neurology & neurosurgery, SNP array
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8
المؤلفون: Anna, Krepelova, Martina, Simandlova, Marketa, Vlckova, Pavel, Kuthan, Andrea L, Vincent, Petra, Liskova
المصدر: Clinicalexperimental ophthalmology. 44(9)
مصطلحات موضوعية: Adult, Forkhead Box Protein L2, Male, Adolescent, DNA Mutational Analysis, Mutation, Missense, Infant, Forkhead Transcription Factors, Blepharophimosis, Middle Aged, Phenotype, Child, Preschool, Urogenital Abnormalities, Skin Abnormalities, Humans, Female, Child, DNA Probes, Multiplex Polymerase Chain Reaction, Genetic Association Studies
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9
المؤلفون: Zdenek Sedlacek, Marketa Vlckova, Viktor Stranecky, Pavel Zimmermann, Martina Simandlova, Hana Hartmannová, Marketa Havlovicova, Miroslava Hancarova, Stanislav Kmoch, Katerina Hodanova
المصدر: European journal of medical genetics. 58(10)
مصطلحات موضوعية: Heart Defects, Congenital, Joint Instability, Genetic counseling, Molecular Sequence Data, Biology, Blepharophimosis, medicine.disease_cause, Kidney, Craniofacial Abnormalities, Exon, Intellectual Disability, Genetics, medicine, Congenital Hypothyroidism, Humans, Acetyltransferase complex, Child, Gene, Genetics (clinical), Histone Acetyltransferases, Mutation, Base Sequence, Facies, General Medicine, Exons, Patella, medicine.disease, Phenotype, Urogenital Abnormalities, Scrotum, Genitopatellar syndrome, Female, Psychomotor Disorders, Psychomotor disorder
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10
المؤلفون: E. Reynders, Dirk Lefeber, Birgit Budde, Marie T. Greally, Anna Rajab, Eva Seemanova, Memmune Yuksel-Apak, Gert Matthijs, Elisa Leão-Teles, Eva Morava, Laura Vilarinho, William B. Dobyns, Lina Basel-Vanagaite, Jeroen van Reeuwijk, Arti Nanda, Marc Larregue, Lionel Van Maldergem, Zsolt Urban, Ron A. Wevers, Jacqueline Vigneron, Han G. Brunner, Dulce Quelhas, Hans van Bokhoven, Sanda Giurgea, Wim Annaert, Martina Simandlova, Stefan Mundlos, Peter Nürnberg, Aikaterini Dimopoulou, Mustafa A. Salih, François Foulquier, Hülya Kayserili, Bjoern Fischer, Stephanie Gruenewald, Uwe Kornak
المصدر: Nature Genetics, 40, 1, pp. 32-4
Nature Genetics, 40, 32-4مصطلحات موضوعية: Male, Glycosylation, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Golgi Apparatus, Biology, Neuroinformatics [DCN 3], medicine.disease_cause, Gerodermia osteodysplastica, Cutis Laxa, Abnormal glycosylation, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, symbols.namesake, Genetics, medicine, Perception and Action [DCN 1], Humans, Mutation, Infant, Golgi apparatus, Glycostation disorders [IGMD 4], medicine.disease, Molecular biology, Neuromuscular development and genetic disorders [UMCN 3.1], Proton-Translocating ATPases, Mitochondrial medicine [IGMD 8], chemistry, Biochemistry, Genetic defects of metabolism [UMCN 5.1], symbols, De Barsy syndrome, Female, Functional Neurogenomics [DCN 2], Wrinkly skin syndrome, Cutis laxa, Immunity, infection and tissue repair [NCMLS 1]
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