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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2113, doi. 10.1002/ajmg.a.63247
By:
- Kaur, Maninder;
- Blair, Justin;
- Devkota, Batsal;
- Fortunato, Sierra;
- Clark, Dinah;
- Lawrence, Audrey;
- Kim, Jiwoo;
- Do, Wonwook;
- Semeo, Benjamin;
- Katz, Olivia;
- Mehta, Devanshi;
- Yamamoto, Nobuko;
- Schindler, Emma;
- Al Rawi, Zayd;
- Wallace, Nina;
- Wilde, Jonathan J.;
- McCallum, Jennifer;
- Liu, Jinglan;
- Xu, Dongbin;
- Jackson, Marie
Publication type:
Article
Ighmbp2D564N mouse model is the first SMARD1 model to demonstrate respiratory defects.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 8, p. 1293, doi. 10.1093/hmg/ddab317
By:
- Smith, Caley E;
- Lorson, Monique A;
- Hernandez, Sara M Ricardez;
- Rawi, Zayd Al;
- Mao, Jiude;
- Marquez, Jose;
- Villalón, Eric;
- Keilholz, Amy N;
- Smith, Catherine L;
- Garro-Kacher, Mona O;
- Morcos, Toni;
- Davis, Daniel J;
- Bryda, Elizabeth C;
- Nichols, Nicole L;
- Lorson, Christian L
Publication type:
Article