نتائج البحث

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes

• Authors : de Bruijn, Suzanne E; Rodenburg, Kim; Corominas, Jordi ...

Subjects: 11124 Institute of Medical Molecular Genetics; 2716 Genetics (clinical); 570 Life sciences

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Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations

• Authors : Kumar, Vikrant; Pouw, Richard B; Autio, Matias I ...

Subjects: 2716 Genetics (clinical); 1311 Genetics; 10036 Medical Clinic

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Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

• Authors : Palles, Claire; West, Hannah D; Chew, Edward ...

Subjects: 2716 Genetics (clinical); 1311 Genetics; 10049 Institute of Pathology and Molecular Pathology

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Fabry Disease Caused by the GLA p.Phe113Leu (p.F113L) Variant: Natural History in Males

• Authors : Cátia Carmona; Fernando Teixeira-e-Costa; Márcia Torres ...

Subjects: Proband; Male; Cerebrovascular Disorders / genetics

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Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder

• Authors : Rolph Pfundt; Christel Depienne; Bregje W.M. van Bon ...

Subjects: 0301 basic medicine; Proband; Male

• Source: American Journal of Human Genetics, 104, 701-708American Journal of Human Genetics, 104, 4, pp. 701-708

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Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

• Authors : Jorge Frank; Jürgen Ellwanger; Alessandra Baumer ...

Subjects: Keratinocytes; Male; 0301 basic medicine

• Source: Romano, M-T, Tafazzoli, A, Mattern, M, Sivalingam, S, Wolf, S, Rupp, A, Thiele, H, Altmüller, J, Nürnberg, P, Ellwanger, J, Gambon, R, Baumer, A, Kohlschmidt, N, Metze, D, Holdenrieder, S, Paus, R,

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Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation

• Authors : Heinrich Sticht; Reza Asadollahi; Laura Gogoll ...

Subjects: 0301 basic medicine; Heart Defects, Congenital; Male

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Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD

• Authors : Peter J. Shepard; Kelly A. Frazer; Kristen Jepsen ...

Subjects: Male; Urea Cycle Disorders; medicine.disease_cause

• Source: Genetics in medicine : official journal of the American College of Medical Genetics, vol 17, iss 8

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TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

• Authors : Xavier Guillonneau; Veselina Moskova-Doumanova; Marie-Elise Lancelot ...

Subjects: Male; Candidate gene; Heterozygote

• Source: American Journal of Human GeneticsAmerican Journal of Human Genetics, Elsevier (Cell Press), 2009,

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Human RFT1 deficiency leads to a disorder of N-linked glycosylation

• Authors : Haeuptle, M A; Pujol, F M; Neupert, C ...

Subjects: 2716 Genetics (clinical); 1311 Genetics; 10076 Center for Integrative Human Physiology

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