Publications:

Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia.

Frontiers In Endocrinology

Zdraveska, Nikolina N; Kocova, Mirjana M; Nicholas, Adeline K AK; Anastasovska, Violeta V; Schoenmakers, Nadia N

Publication Date: 2020

Variant appearance in text: TG: 4093A>T; N1365Y

PubMed Link: 32765423

Variant Present in the following documents:

• Main text
• fendo-11-00413.pdf

View BVdb publication page

Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: TG: N1365Y; rs142264604

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 10

View BVdb publication page