نتائج البحث - Mahin Golabi
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Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly حسب Jeffrey E. Ming, Michelle E. Kaupas, Erich Roessler, Han G. Brunner, Mahin Golabi, Mustafa Tekin, Robert F. Stratton, Eva Sujansky, Sherri J. Bale, Maximilian Muenke
منشور في 2002Artigo -
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A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO) حسب Jonathan Zonana, Melissa E. Elder, Lynda C. Schneider, Seth J. Orlow, Celia Moss, Mahin Golabi, Stuart K. Shapira, Peter Farndon, Diane W. Wara, Stephanie A. Emmal, Betsy Ferguson
منشور في 2000Artigo -
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The genetic basis of DOORS syndrome: an exome-sequencing study حسب Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu, Lindsay C. Burrage, Choel Kim, Mutsuki Hori, Berkley R. Powell, Fiona Stewart, Têmis Maria Félix, Jenneke van den Ende, Marzena Wiśniewska, Hülya Kayserili, Patrick Rump, Sheela Nampoothiri, Salim Aftimos, Antje Mey, Lal D V Nair, Michael L. Begleiter, Isabelle De Bie, Girish Meenakshi, Mitzi L. Murray, Gabriela M. Repetto, Mahin Golabi, Edward Blair, Alison Male, Fabienne Giuliano, Ariana Kariminejad, William G. Newman, Sanjeev S. Bhaskar, Jonathan E. Dickerson, Bronwyn Kerr, Siddharth Banka, Jacques C. Giltay, Dagmar Wieczorek, Anna Tostevin, Joanna Wiszniewska, Sau Wai Cheung, Raoul C. M. Hennekam, Richard A. Gibbs, Brendan Lee, Sanjay M. Sisodiya
منشور في 2013Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Genetics
Gene
Medicine
Fetus
Mutation
Pregnancy
Allele
Cancer research
Chemotherapy
Craniofacial
Cyclophosphamide
DNA sequencing
Dentistry
Dermatology
Ectodermal dysplasia
Exome
Exome sequencing
Exon
Haploinsufficiency
Hedgehog signaling pathway
Holoprosencephaly
Hypodontia
Hypohidrotic ectodermal dysplasia
Incontinentia pigmenti
Intellectual disability
Internal medicine
Patched
Phenotype
Sanger sequencing