A. A. G. L. Schinzel
AuthID: R-00G-CDW
1
TÃTULO: Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. WES in congenital glaucoma with systemic anomalies Full Text
AUTORES: Reis, LM; Tyler, RC; Weh, E; Hendee, KE; Schilter, KF; Phillips, JA; Sequeira, S; Schinzel, A; Semina, EV;
PUBLICAÇÃO: 2016, FONTE: CLINICAL GENETICS, VOLUME: 90, NÚMERO: 4
AUTORES: Reis, LM; Tyler, RC; Weh, E; Hendee, KE; Schilter, KF; Phillips, JA; Sequeira, S; Schinzel, A; Semina, EV;
PUBLICAÇÃO: 2016, FONTE: CLINICAL GENETICS, VOLUME: 90, NÚMERO: 4
2
TÃTULO: Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome Full Text
AUTORES: DeScipio, C; Schneider, L; Young, TL; Wasserman, N; Yaeger, D; Lu, FM; Wheeler, PG; Williams, MS; Bason, L; Jukofsky, L; Menon, A; Geschwindt, R; Chudley, AE; Saraiva, J; Schinzel, AAGL; Guichet, A; Dobyns, WE; Toutain, A; Spinner, NB; Krantz, ID;
PUBLICAÇÃO: 2005, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 134A, NÚMERO: 1
AUTORES: DeScipio, C; Schneider, L; Young, TL; Wasserman, N; Yaeger, D; Lu, FM; Wheeler, PG; Williams, MS; Bason, L; Jukofsky, L; Menon, A; Geschwindt, R; Chudley, AE; Saraiva, J; Schinzel, AAGL; Guichet, A; Dobyns, WE; Toutain, A; Spinner, NB; Krantz, ID;
PUBLICAÇÃO: 2005, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 134A, NÚMERO: 1
