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Sfoglia per RIVISTA
AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Collezione AOU San Luigi di Orbassano

Items : 2

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. in American journal of medical genetics. Part A / Am J Med Genet A. 2022 Dec;188(12):3492-3504. doi: 10.1002/ajmg.a.62976. Epub 2022 Sep 22.

2022
AOU San Luigi di Orbassano

Sy MR; Chauhan J; Prescott K; Imam A; Kraus A; Beleza A; Salkeld L; Hosdurga S; Parker M; Vasudevan P; Islam L; Goel H; Bain N; Park SM; Mohammed S; Dieterich K; Coutton C; Satre V; Vieville G; Donaldson A; Beneteau C; Ghoumid J; Van Den Bogaert K; Boogaerts A; Boudry E; Vanlerberghe C; Petit F; Bernardini L; Torres B; et alii...

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. in American journal of medical genetics. Part A / Am J Med Genet A. 2017 Mar;173(3):601-610. doi: 10.1002/ajmg.a.37991. Epub 2017 Jan 27.

2017
AOU San Luigi di Orbassano

Tenorio J; Álvarez I; Riancho-Zarrabeitia L; Martos-Moreno GÁ; Mandrile G; de la Flor Crespo M; Sukchev M; Sherif M; Kramer I; Darnaude-Ortiz MT; Arias P; Gordo G; Dapía I; Martinez-Villanueva J; Gómez R; Iturzaeta JM; Otaify G; García-Unzueta M; Rubinacci A; Riancho JA; Aglan M; Temtamy S; Hamid MA; Argente J; Ruiz-Pérez VL; Heath KE; Lapunzina P;