Results 141 to 150 of about 3,493 (177)
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Possible gonadal mosaicism in a family with hemoglobin Köln.
The Johns Hopkins medical journal, 1980A brother and sister were the first members of a family to possess hemoglobin Köln (alpha 2 beta 2(98) Val leads to Met). Studies of these siblings and their parents strongly indicated that the anomaly had arisen by spontaneous mutation. Gonadal mosaicism of one of the parents offers the best explanation for the appearance of a spontaneous mutation in ...
T B, Bradley +4 more
openaire +1 more source
Somatic‐gonadal mosaicism causing Sotos syndrome
American Journal of Medical Genetics Part A, 2016Kamien, Benjamin +7 more
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Gonadal mosaicism in hereditary angioedema
Clinical Genetics, 2006GUARINO, STEFANO +8 more
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Genetic counseling in Angelman syndrome: Gonadal mosaicism
American Journal of Medical Genetics, 1998H J, Stalker, C A, Williams, J, Wagstaff
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“Pure” Gonadal Dysgenesis with XO/XX Mosaicism
The Journal of Clinical Endocrinology & Metabolism, 1964A R, SOHVAL +3 more
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A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder
Clinical Dysmorphology, 2020Laura A, Cross +4 more
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Deep sequencing refines prior genomic analysis in families with apparent gonadal mosaicism
Clinical Immunology, 2023Leila Jamal +2 more
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