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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: May 28, 2023. (Total: 217323Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Abnormalities and NPHP1[original query]
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
American journal of human genetics 2004 Jul 75 (1): 82-91.
Parisi Melissa A, Bennett Craig L, Eckert Melissa L, Dobyns William B, Gleeson Joseph G, Shaw Dennis W W, McDonald Ruth, Eddy Allison, Chance Phillip F, Glass Ian
Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia.
Genetics and molecular research : GMR 2015 14 (4): 16041-9.
Dong Y, Pan Y, Wang R, Zhang Z, Xi Q, Liu R
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Pediatric neurology 2020 3 106 43-49.
Radha Rama Devi Akella, Naushad Shaik Mohammad, Lingappa Loke
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