Results 121 to 130 of about 656,619 (173)

Genetic Heterogeneity in Autism Spectrum Disorder: Diagnostic Yield, Recurrent Genes, and Rare Variant-Phenotype Associations from Whole-Exome Sequencing. [PDF]

Int J Mol Sci
Gaouzi Z, Spoto G, Polito F, Festali R, Gasparo I, Licitri L, Mirabello AM, Romano S, Macaione V, Dini N, El Fahime E, Boutayeb S, Kriouile Y, Diawara I, di Rosa G, Aguennouz M.   +15 more
europepmc   +1 more source

Clinical and Genetic Characterization of a Patient With SEC63-Related Autosomal Dominant Polycystic Liver Disease and an IFT140 Pathogenic Variant Associated With Polycystic Kidney Disease. [PDF]

Cureus
Ortega-Macías AG, Gupta U, Escobar Gil T, Memon J, García PR.   +4 more
europepmc   +1 more source

The population frequency of predicted pathogenic variants in the genes associated with Autosomal Dominant Polycystic Liver Disease (ADPLD) and kidney cysts. [PDF]

PLoS One
Varughese S, Huang M, Savige J.
europepmc   +1 more source

Compound heterozygous mutations in CC2D2A cause Meckel-Gruber syndrome: a case report and review of the literature. [PDF]

J Med Case Rep
Liu L, Lv Y, Zhou X.
europepmc   +1 more source

Characterization of Ocular Developmental Disorders in the Israeli Population: Genotype-Phenotype Correlations and Novel Candidate Genes. [PDF]

Biomolecules
Rabinovich Y, Vardizer Y, Pincovich S, Wolowelsky M, Kulyamzin S, Ehrenberg M, Zayit-Soudry S, Man Peles I, Leibu R, Goldenberg-Cohen N, Ben-Yosef T.   +10 more
europepmc   +1 more source

The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations. [PDF]

Int J Mol Sci
Butnariu LI, Russu R, Babici RG, Băgiag A, Trandafir LM, Țarcă E, Popovici P, Gimiga N, Starcea IM.   +8 more
europepmc   +1 more source

Autosomal Dominant Alport Syndrome. [PDF]

J Am Soc Nephrol
Savige J, Huang M.
europepmc   +1 more source

Pierson syndrome with numerous dilated tubules masquerading as autosomal recessive polycystic kidney disease: a case report. [PDF]

CEN Case Rep
Yamamura-Miyazaki N, Michigami T, Okamoto N, Iida T, Yanagi K, Kaname T, Fukuda S, Baba M, Fujiwara K, Kubota T.   +9 more
europepmc   +1 more source

Preimplantation genetic testing for concurrent Meckel Syndrome and hereditary breast cancer in a Chinese family harboring a novel NPHP3 pathogenic variant and a canonical BRCA2 frameshift variant. [PDF]

Genet Mol Biol
Zhang Y, Huang X, Qiu P, Ji H, Ding L, He X, Shi Y, Huang Y, Li P, Mei L.   +9 more
europepmc   +1 more source

Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children. [PDF]

Children (Basel)
Zisi A, Kostoulas C, Sesse A, Kosmeri C, Serbis A, Lee H, Georgiou I, Siomou E.   +7 more
europepmc   +1 more source