תוצאות חיפוש - Christine Labrèze
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Genotypes and Phenotypes of 162 Families with a <b><i>Glomulin</i></b> Mutation מאת Pascal Brouillard, Laurence M. Boon, Nicole Revençu, J. Berg, A. Dompmartin, Josée Dubois, Maria C. Garzón, Simon Holden, Loshan Kangesu, Christine Labrèze, Sally Ann Lynch, C McKeown, Raimundas Meškauskas, I. Quéré, Samira Syed, P. Vabres, Michel Wassef, John B. Mulliken, Miikka Vikkula
יצא לאור 2013Artigo -
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Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations מאת Nicole Revençu, Laurence M. Boon, John B. Mulliken, O Enjolras, Maria Cordisco, Patricia E. Burrows, Philippe Clapuyt, Frank Hammer, Josée Dubois, Eulàlia Baselga, Francesco Brancati, Robin Carder, José Miguel Ceballos Quintal, Bruno Dallapiccola, Gayle Fischer, Ilona J. Frieden, Maria C. Garzón, John Harper, Jennifer Johnson-Patel, Christine Labrèze, Loreto Martorell, Harriet J. Paltiel, Annette Pohl, Julie Prendiville, I. Quéré, Dawn H. Siegel, Enza Maria Valente, Annet van Hagen, Liselot van Hest, Keith K. Vaux, Asunción Vicente, Lisa Weibel, David Chitayat, Miikka Vikkula
יצא לאור 2008Artigo
כלי חיפוש:
נושאים קשורים
Biology
Gene
Genetics
Medicine
Pathology
Penetrance
Phenotype
Angiography
Angiomatosis
Apoptosis
Arteriovenous malformation
Cerebral angiography
Dermatology
Disease
Expressivity
Genetic counseling
Genotype
Genotype-phenotype distinction
Haploinsufficiency
Internal medicine
Intracranial Arteriovenous Malformations
Macrocephaly
Mutation
Neurofibromatosis
PI3K/AKT/mTOR pathway
PTEN
Radiology
Sturge–Weber syndrome
Vascular malformation