Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development
نویسندگان
چکیده
منابع مشابه
Behavioural Problems in Children with 46XY Disorders of Sex Development
The aim of this study is to determine the behavioural problems of children with 46XY disorders of sex development (DSD) with genital ambiguity and to identify the risk factors that may influence behaviour. The 27 participants (aged 6-18 years) consisted of 21 patients raised as boys and 6 patients raised as girls. Control data were obtained from a representative sibling of each patient who was ...
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BACKGROUND Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders. METHODS We developed technical, bioinformatic, interpretive, and validation pipelines for whole-exome sequencing in a certified clinical laboratory to identify sequence variants underlying disease phenotypes in patients. RESULTS We present data...
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this study investigated the impact of explicit instruction of morphemic analysis and synthesis on the vocabulary development of the students. the participants were 90 junior high school students divided into two experimental groups and one control group. morphological awareness techniques (analysis/synthesis) and conventional techniques were used to teach vocabulary in the experimental groups a...
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this study investigates the cohesive devices used in the textbook of english for the students of psychology. the research questions and hypotheses in the present study are based on what frequency and distribution of grammatical and lexical cohesive devices are. then, to answer the questions all grammatical and lexical cohesive devices in reading comprehension passages from 6 units of 21units th...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2015
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2014-2605