Որոնման արդյունքները - B Hamel
- Ցուցադրվում են 1 - 4 արդյունքները 4
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1
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism Frédéric Laumonnier, Cheryl Shoubridge, Catherine Antar, Lam Son Nguyen, Hilde Van Esch, Tjitske Kleefstra, Sylvain Briault, J. P. Fryns, B Hamel, Jamel Chelly, Hans‐Hilger Ropers, Nathalie Ronce, S. Blesson, Claude Moraine, Jozef Gécz, Martine Raynaud
Հրապարակվել է 2009Artigo -
2
Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses Wim Wuyts, Wim Van Hul, Kristel De Boulle, Jan Hendrickx, Egbert Bakker, Filip Vanhoenacker, Florindo Mollica, Hermann‐Josef Lüdecke, Bekir Sıtkı Şayli, Ugo E. Pazzaglia, Geert Mortier, B Hamel, Ernest U. Conrad, Mark Matsushita, W H Raskind, P J Willems
Հրապարակվել է 1998Artigo -
3
Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation Lars Riff Jensen, M Amende, Ulf Gurok, Bettina A. Moser, Verena Gimmel, Andreas Tzschach, Andreas Janecke, Gholamali Tariverdian, Jamel Chelly, Jean‐Pierre Fryns, Hilde Van Esch, Tjitske Kleefstra, B Hamel, Claude Moraine, Jozef Gécz, Gillian Turner, Richard Reinhardt, Vera M. Kalscheuer, Hans‐Hilger Ropers, Steffen Lenzner
Հրապարակվել է 2005Artigo -
4
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis Yvonne J. Vos, Hermien E. K. de Walle, K. K. Bos, Arjan Stegeman, Annelies M. ten Berge, Monique J. Bruining, Merel C. van Maarle, Mariet W. Elting, Nicolette S. den Hollander, B Hamel, Ana María Fortuna, Lone Sunde, Irene Stolte‐Dijkstra, C. T. R. M. Schrander‐Stumpel, Robert M.W. Hofstra
Հրապարակվել է 2009Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Gene
Genetics
Missense mutation
Mutation
Medicine
Autism
Bioinformatics
Cell biology
Chromatin
Chromatin remodeling
Dendritic spine
Endocrinology
Gene mutation
Genetic counseling
Genetic heterogeneity
Genotype
Genotype-phenotype distinction
Hereditary multiple exostoses
Hippocampal formation
Internal medicine
Loss function
Mutation rate
Mutation testing
Neuroscience
Nonsense mutation
Osteoporosis
Phenotype
Psychiatry
Skeletal disorder