Pesquisa | Biblioteca Virtual em Saúde

1.

Mono- and biallelic variant effects on disease at biobank scale.

Heyne, H O; Karjalainen, J; Karczewski, K J; Lemmelä, S M; Zhou, W; Havulinna, A S; Kurki, M; Rehm, H L; Palotie, A; Daly, M J.

Nature ; 613(7944): 519-525, 2023 01.

Artigo em Inglês | MEDLINE | ID: mdl-36653560

2.

A framework for automated gene selection in genomic applications.

Lazo de la Vega, L; Yu, W; Machini, K; Austin-Tse, C A; Hao, L; Blout Zawatsky, C L; Mason-Suares, H; Green, R C; Rehm, H L; Lebo, M S.

Genet Med ; 23(10): 1993-1997, 2021 10.

Artigo em Inglês | MEDLINE | ID: mdl-34113001

3.

Guidelines for investigating causality of sequence variants in human disease.

MacArthur, D G; Manolio, T A; Dimmock, D P; Rehm, H L; Shendure, J; Abecasis, G R; Adams, D R; Altman, R B; Antonarakis, S E; Ashley, E A; Barrett, J C; Biesecker, L G; Conrad, D F; Cooper, G M; Cox, N J; Daly, M J; Gerstein, M B; Goldstein, D B; Hirschhorn, J N; Leal, S M; Pennacchio, L A; Stamatoyannopoulos, J A; Sunyaev, S R; Valle, D; Voight, B F; Winckler, W; Gunter, C.

Nature ; 508(7497): 469-76, 2014 Apr 24.

Artigo em Inglês | MEDLINE | ID: mdl-24759409

4.

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale, H; Shen, J; McLaughlin, H; Alfares, A; Kelly, M A; Pugh, T J; Funke, B H; Rehm, H L; Lebo, M S.

Clin Genet ; 84(5): 453-63, 2013 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-24033266

5.

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.

Eudy, J D; Weston, M D; Yao, S; Hoover, D M; Rehm, H L; Ma-Edmonds, M; Yan, D; Ahmad, I; Cheng, J J; Ayuso, C; Cremers, C; Davenport, S; Moller, C; Talmadge, C B; Beisel, K W; Tamayo, M; Morton, C C; Swaroop, A; Kimberling, W J; Sumegi, J.

Science ; 280(5370): 1753-7, 1998 Jun 12.

Artigo em Inglês | MEDLINE | ID: mdl-9624053

6.

Connexin 26 studies in patients with sensorineural hearing loss.

Kenna, M A; Wu, B L; Cotanche, D A; Korf, B R; Rehm, H L.

Arch Otolaryngol Head Neck Surg ; 127(9): 1037-42, 2001 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-11556849

7.

A new age in the genetics of deafness.

Rehm, H L; Morton, C C.

Genet Med ; 1(6): 295-302; quiz 303, 1999.

Artigo em Inglês | MEDLINE | ID: mdl-11258632

8.

Coordinate synthesis and turnover of heat shock proteins in Borrelia burgdorferi: degradation of DnaK during recovery from heat shock.

Cluss, R G; Goel, A S; Rehm, H L; Schoenecker, J G; Boothby, J T.

Infect Immun ; 64(5): 1736-43, 1996 May.

Artigo em Inglês | MEDLINE | ID: mdl-8613385

9.

Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.

Rehm, H L; Gutiérrez-Espeleta, G A; Garcia, R; Jiménez, G; Khetarpal, U; Priest, J M; Sims, K B; Keats, B J; Morton, C C.

Hum Mutat ; 9(5): 402-8, 1997.

Artigo em Inglês | MEDLINE | ID: mdl-9143918

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