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المؤلفون: Ann Sophie Kaiser, Fowzan S. Alkuraya, Trevor Cole, Paul A. Mulder, Pablo Lapunzina, Inge B. Mathijssen, Jan Liebelt, Claire G. Salter, Pierre Sarda, Jill A. Fahrner, Manuela Priolo, Dorothee Neubauer, Nursel Elcioglu, Denny Schanze, Katrin Tatton-Brown, Sarah F. Smithson, Jair Tenorio, Thomas E. Neumann, Charles Shaw-Smith, Letizia Pintomalli, Shane McKee, Emilia K. Bijlsma, Sally J. Davies, Sue Price, Rajesh V. Thakker, Noelia García González, Rita Valdez, Sally Ann Lynch, Nataliya Di Donato, Arie van Haeringen, Astrid S. Plomp, Inés Hernández Acero, Ilka Huber, Marcela Zollino, Laura Bernardini, Raoul C.M. Hennekam, Martin Zenker, Mohnish Suri, Mabel Segovia, Johanna M. van Hagen, Ghayda Mirzaa, Leonie A. Menke, Kreepa Kooblall, Arveen Kamath, Christine Coubes, I. Dapia, Corrado Mammì, Alison Foster, Tara Montgomery, Pedro Arias, Fernando Santos-Simarro, Maria Iascone, Maria Antonietta Pisanti, Saskia M. Maas
المساهمون: ANS - Cellular & Molecular Mechanisms, Graduate School, ARD - Amsterdam Reproduction and Development, Human Genetics, Paediatric Genetics, General Paediatrics, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Human genetics, Pediatric surgery
المصدر: Human Mutation
Human mutation, 39(9), 1226-1237. Wiley-Liss Inc.
Human Mutation, 39(9), 1226-1237
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, Di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, Van Haeringen, A, Van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, ' Further delineation of Malan syndrome ', Human Mutation, vol. 39, no. 9, pp. 1226-1237 . https://doi.org/10.1002/humu.23563
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A-S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, van Haeringen, A, van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, ' Further delineation of Malan syndrome ', Human Mutation, vol. 39, no. 9, pp. 1226-1237 . https://doi.org/10.1002/humu.23563
Human Mutation, 39(9), 1226-1237. Wiley-Liss Inc.مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Developmental Disabilities, phenotype-genotype, Craniofacial Abnormalities, Epilepsy, Marshall–Smith syndrome, Septo-Optic Dysplasia, Intellectual disability, Child, Genetics (clinical), Research Articles, biology, Sotos syndrome, Exons, NFIX, Child, Preschool, Female, medicine.symptom, Chromosome Deletion, Hand Deformities, Congenital, Research Article, Adult, medicine.medical_specialty, Prominent forehead, phenotype‐genotype, Adolescent, phenotype, Mutation, Missense, 03 medical and health sciences, Young Adult, Intellectual Disability, Genetics, medicine, Congenital Hypothyroidism, Humans, Abnormalities, Multiple, Malan syndrome, Weaver syndrome, Bone Diseases, Developmental, Macrocephaly, medicine.disease, Marshall-Smith syndrome, Megalencephaly, NFI Transcription Factors, 030104 developmental biology, Marshall‐Smith syndrome, biology.protein
وصف الملف: application/pdf
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المؤلفون: Franziskus Johannes Bosse, Grete Vigemyr, Knut Øymar, Maryam Saeed, Ilka Huber, Sølvi Noraas, Ingvild S. Ask, Bjørn Barstad, Dag Tveitnes, Hanne Quarsten
المصدر: Journal of Clinical Microbiology. 56
مصطلحات موضوعية: DNA, Bacterial, Male, 0301 basic medicine, Microbiology (medical), Genotype, 030106 microbiology, Real-Time Polymerase Chain Reaction, medicine.disease_cause, Sensitivity and Specificity, 03 medical and health sciences, 0302 clinical medicine, Lyme disease, Borrelia burgdorferi Group, CSF pleocytosis, 030225 pediatrics, Borrelia, parasitic diseases, medicine, Humans, Lyme Neuroborreliosis, Prospective Studies, Borrelia burgdorferi, Child, Genotyping, biology, Norway, business.industry, Bacteriology, bacterial infections and mycoses, biology.organism_classification, medicine.disease, Antibodies, Bacterial, Molecular Diagnostic Techniques, Child, Preschool, Immunology, Female, Borrelia garinii, business, Neuroborreliosis, geographic locations
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المؤلفون: Birgit Lauer, Ilka Huber, Bernd M. Spriewald, Hartmut Wenkel, Carolina Lefter
المصدر: Ophthalmic research. 39(2)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Genotype, Medizinische Fakultät -ohne weitere Spezifikation, Eye disease, Genes, MHC Class II, chemical and pharmacologic phenomena, Biology, Iridocyclitis, Polymerase Chain Reaction, Cellular and Molecular Neuroscience, Antigen, Gene Frequency, Antigens, CD, HLA-DQ Antigens, medicine, Cytotoxic T cell, HLA-DQ beta-Chains, Humans, CTLA-4 Antigen, Genetic Predisposition to Disease, ddc:610, cardiovascular diseases, Child, Allele frequency, Aged, Fuchs' heterochromic cyclitis, Polymorphism, Genetic, Tumor Necrosis Factor-alpha, General Medicine, HLA-DR Antigens, Middle Aged, medicine.disease, Antigens, Differentiation, Sensory Systems, Ophthalmology, Immunology, Female, Gene polymorphism, Anterior uveitis, HLA-DRB1 Chains
وصف الملف: application/pdf
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المؤلفون: S.F. Ge, M. Luo, X. Song, P. Zhang, L.Z. Wang, Masayoshi Takeuchi, Jost B. Jonas, Nai-Tse Tsai, A. Kampik, A. Harris, Alexander A. Bialasiewicz, F. Rombold, Y.X. Zhou, I. Januleviciene, H.Y. Liu, Y.Y. Wu, Frank Schlichtenbrede, A. Shakoor, Kazuo Nakamura, Ilka Huber, Ulrich H. M. Spandau, Hiroyoshi Inoue, Alejandra N. Martinez, Carolina Lefter, Hartmut Wenkel, Shizuya Saika, C.L. Haine, Imtiaz A. Chaudhry, Z.Q. Wang, M. Gupta, R. Li, Tsutomu Imaizumi, Yoshitaka Ohnishi, Takafumi Yoshida, H.J. Garzozi, S.Y. Luo, Emiko Senba, M. Shahidi, Y. Catoira, X.Q. Fan, J. Lu, N.P. Blair, Z.X. Wang, D. Sines, James Crandall, Takashi Ueyama, B. Siesky, C.W. Yung, X.G. Sun, Gregory I. Liou, R.B. Jia, Yuka Okada, Y. Khalifa, A.S. Neubauer, Caesar Borlongan, Milton Ozório Moraes, S.J. Deng, Kumi Shirai, Yumiko Yoshida, Sho-ichi Yamagishi, Farrukh A. Shamsi, Suraporn Matragoon, Takanori Matsui, Bernd M. Spriewald, Fenwick C. Riley, Ruth B. Caldwell, R.W. Strauss, Takeshi Miyamoto, Birgit Lauer
المصدر: Ophthalmic Research. 39:61-61
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Ophthalmology, General Medicine, Sensory Systems