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Browsing Tag

Human Genetics

33 posts
GGenetics
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
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Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)

  • September 6, 2025
Capone VP, Morello W, Taroni F, Montini G. Genetics of congenital anomalies of the kidney and urinary tract:…
GGenetics
A novel MCMDC2 variant causes meiotic arrest and non-obstructive azoospermia in a consanguineous Chinese family
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A novel MCMDC2 variant causes meiotic arrest and non-obstructive azoospermia in a consanguineous Chinese family

  • September 2, 2025
Cerván-Martín M, Castilla JA, Palomino-Morales RJ, Carmona FD. Genetic landscape of nonobstructive azoospermia and new perspectives for the…
GGenetics
Chromatin dynamics of a large-sized genome provides insights into polyphenism and X0 dosage compensation of locusts
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Chromatin dynamics of a large-sized genome provides insights into polyphenism and X0 dosage compensation of locusts

  • September 1, 2025
Chromosome-level assembly of the migratory locust We conducted genome sequencing on an adult female locust with a heterozygosity…
GGenetics
MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review
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MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review

  • September 1, 2025
Morales PN, Coons AN, Koopman AJ, Patel S, Chase PB, Parvatiyar MS, et al. Post-translational modifications of vertebrate…
GGenetics
Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium | Orphanet Journal of Rare Diseases
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Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium | Orphanet Journal of Rare Diseases

  • August 29, 2025
Laing NG. Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci. 2012;49:33–48. CAS  PubMed  Google Scholar  Carey IM,…
GGenetics
Tamoxifen induces PI3K activation in uterine cancer
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Tamoxifen induces PI3K activation in uterine cancer

  • August 22, 2025
Ethics statement This study complies with all relevant ethical regulations. TAMARISK specimens were obtained and sequenced with the…
GGenetics
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
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A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant

  • August 22, 2025
Statland JM, Barohn RJ, McVey AL, Katz JS, Dimachkie MM. Patterns of weakness, classification of motor neuron disease,…
GGenetics
Early lipid genetics: identification of common and rare genetic variants for lipid traits in Indian adolescents
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Early lipid genetics: identification of common and rare genetic variants for lipid traits in Indian adolescents

  • August 21, 2025
Heller DA, de Faire U, Pedersen NL, Dahlen G, McClearn GE. Genetic and environmental influences on serum lipid…
GGenetics
Neurobehavioral profile of individuals with pathogenic variants in CHD3
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Neurobehavioral profile of individuals with pathogenic variants in CHD3

  • August 19, 2025
Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195…
GGenetics
Pathogenic ZNF319 variant disrupts nuclear localization and transcriptional regulation to cause a novel form of autosomal recessive leukodystrophy
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Pathogenic ZNF319 variant disrupts nuclear localization and transcriptional regulation to cause a novel form of autosomal recessive leukodystrophy

  • August 18, 2025
van der Knaap MS, Bugiani M. Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.…
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