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 Città della Salute di Torino
AOU San Luigi di Orbassano

Scott DA; Gasparini P; Rosenfeld JA; Shaw CA; Luna PN; Zhao X; Bush JO; Kuwahara A; Bacino CA; Bi W; Lampe A; Lam W; Mussa A; Ferrero GB; Neas K; Beddow R; Tørring PM; Faletra F; Spedicati B; Brunetti-Pierri N; Carli D; Mandrile G; Pinelli M; Torres B; Mattina T; Petit F; Bernardini L; Boogaerts A; Boudry E; 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;