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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
Published in:
PLoS Genetics, 2018, v. 14, n. 11, p. 1, doi. 10.1371/journal.pgen.1007671
By:
- Hiatt, Susan M.;
- Neu, Matthew B.;
- Ramaker, Ryne C.;
- Hardigan, Andrew A.;
- Prokop, Jeremy W.;
- Hancarova, Miroslava;
- Prchalova, Darina;
- Havlovicova, Marketa;
- Prchal, Jan;
- Stranecky, Viktor;
- Yim, Dwight K. C.;
- Powis, Zöe;
- Keren, Boris;
- Nava, Caroline;
- Mignot, Cyril;
- Rio, Marlene;
- Revah-Politi, Anya;
- Hemati, Parisa;
- Stong, Nicholas;
- Iglesias, Alejandro D.
Publication type:
Article
Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses.
Published in:
2000
By:
- Applegarth, Derek A.;
- Toone, Jennifer R.;
- Rolland, Marie O.;
- Black, Susan H.;
- Yim, Dwight K. C.;
- Bemis, Gardner;
- Applegarth, D A;
- Toone, J R;
- Rolland, M O;
- Black, S H;
- Yim, D K;
- Bemis, G
Publication type:
journal article
Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer.
Published in:
JAMA: Journal of the American Medical Association, 2007, v. 297, n. 21, p. 2360, doi. 10.1001/jama.297.21.2360
By:
- Kaurah, Pardeep;
- MacMillan, Andrée;
- Boyd, Niki;
- Senz, Janine;
- De Luca, Alessandro;
- Chun, Nicki;
- Suriano, Gianpaolo;
- Zaor, Sunya;
- Van Manen, Lori;
- Gilpin, Cathy;
- Nikkel, Sarah;
- Connolly-Wilson, Mary;
- Weissman, Scott;
- Rubinstein, Wendy S.;
- Sebold, Courtney;
- Greenstein, Robert;
- Stroop, Jennifer;
- Yim, Dwight;
- Panzini, Benoit;
- McKinnon, Wendy
Publication type:
Article

Found: 3

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses.

Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer.