Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Orphanet Journal Of Rare Diseases
Scocchia, Alicia A; Kangas-Kontio, Tiia T; Irving, Melita M; Hero, Matti M; Saarinen, Inka I; Pelttari, Liisa L; Gall, Kimberly K; Valo, Satu S; Huusko, Johanna M JM; Tallila, Jonna J; Sistonen, Johanna J; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP
Publication Date: 2021-10-09
Variant appearance in text: FLNB: 605T>C; Met202Thr
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Orphanet Journal Of Rare Diseases
Scocchia, Alicia A; Kangas-Kontio, Tiia T; Irving, Melita M; Hero, Matti M; Saarinen, Inka I; Pelttari, Liisa L; Gall, Kimberly K; Valo, Satu S; Huusko, Johanna M JM; Tallila, Jonna J; Sistonen, Johanna J; Koskenvuo, Juha J; Alastalo, Tero-Pekka TP
Publication Date: 2021-10-09
Variant appearance in text: FLNB: 605T>C; Met202Thr
Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.
Molecules (Basel, Switzerland)
S, Udhaya Kumar UK; Sankar, Srivarshini S; Younes, Salma S; D, Thirumal Kumar TK; Ahmad, Muneera Naseer MN; Okashah, Sarah Samer SS; Kamaraj, Balu B; Al-Subaie, Abeer Mohammed AM; C, George Priya Doss GPD; Zayed, Hatem H
Development of a comprehensive noninvasive prenatal test.
Genetics And Molecular Biology
Malcher, Carolina C; Yamamoto, Guilherme L GL; Burnham, Philip P; Ezquina, Suzana A M SAM; Lourenço, Naila C V NCV; Balkassmi, Sahilla S; Antonio, David S Marco DSM; Hsia, Gabriella S P GSP; Gollop, Thomaz T; Pavanello, Rita C RC; Lopes, Marco Antonio MA; Bakker, Egbert E; Zatz, Mayana M; Bertola, Débora D; Vlaminck, Iwijn De I; Passos-Bueno, Maria Rita MR