Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Sobering, Andrew K AK; Li, Dong D; Beighley, Jennifer S JS; Carey, John C JC; Donald, Tyhiesia T; Elsea, Sarah H SH; Figueroa, Karla P KP; Gerdts, Jennifer J; Hamlet, Andre A; Mirzaa, Ghayda M GM; Nelson, Beverly B; Pulst, Stefan M SM; Smith, Janice L JL; Tassone, Flora F; Toriello, Helga V HV; Walker, Ruth H RH; Yearwood, Katherine R KR; Bhoj, Elizabeth J EJ
Publication Date: 2020-12
Variant appearance in text: NALCN: 2203C>T; Arg735*
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
Journal Of Clinical Medicine
Śmigiel, Robert R; Biela, Mateusz M; Szmyd, Krzysztof K; Błoch, Michal M; Szmida, Elżbieta E; Skiba, Paweł P; Walczak, Anna A; Gasperowicz, Piotr P; Kosińska, Joanna J; Rydzanicz, Małgorzata M; Stawiński, Piotr P; Biernacka, Anna A; Zielińska, Marzena M; Gołębiowski, Waldemar W; Jalowska, Agnieszka A; Ohia, Grażyna G; Głowska, Bożena B; Walas, Wojciech W; Królak-Olejnik, Barbara B; Krajewski, Paweł P; Sykut-Cegielska, Jolanta J; Sąsiadek, Maria M MM; Płoski, Rafał R
Publication Date: 2020-07-13
Variant appearance in text: NALCN: 2203C>T; Arg735Ter