Results 201 to 210 of about 18,812 (235)

[Microdeletion syndromes].

Casopis lekaru ceskych, 2002
New high-resolution cytogenetical technique identified an increased number of terminal, interstitial and subtelomeric microdeletion as the etiology of many syndromes of multiple congenital anomalies, mental retardation and facial dysmorphy. A loss of contiguous genes shows a high phenotypical variability and at the same time it is significant for ...
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Novel microdeletion syndromes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2007
Ian D, Krantz, Nancy B, Spinner
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Microdeletion of ZBTB20 Results in a Phenotype Overlapping With That of the Microdeletion 3q13.31 Syndrome

Cancer Genetics, 2016
Milene Mulatinho, Jessica Tenney, Eric Vilain, Fabiola Quintero-Rivera   +3 more
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NF1 Microdeletions in Neurofibromatosis Type 1: From Genotype to Phenotype

Human Mutation, 2010
Isidor B, Diana Rodriguez, Pierre Wolkenstein   +2 more
exaly  

Recurrent Microdeletions at 15q11.2 and 16p13.11 Predispose to Idiopathic Generalized Epilepsies.

Brain, 2010
Michael Steffens, Eva Brilstra, Heather C. Mefford   +2 more
exaly  

Microdeletion Syndromes

2006
Oliver Bartsch, Eva Seemanová
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Expanding the Scope of Noninvasive Prenatal Testing: Detection of Fetal Microdeletion Syndromes

American Journal of Obstetrics and Gynecology, 2015
Peter Benn, Zachary P Demko, Ronald J Wapner   +2 more
exaly  

A Decade of Experience Emphasizes That Testing for Y Microdeletions Is Essential in American Men With Azoospermia and Severe Oligozoospermia

Fertility and Sterility, 2010
Peter N. Schlegel, Darius Paduch, Peter J Stahl   +2 more
exaly  

Unequal Meiotic Crossover: A Frequent Cause of NF1 Microdeletions

American Journal of Human Genetics, 2000
Hilde Brems, Conxi Lázaro, Eric Legius
exaly  

Microdeletion

2006
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