OpenURL Connection Search - EBSCO

Connecting you to content on EBSCOhost

Select item for more details and to access through your institution.

De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 962, doi. 10.1002/ajmg.a.61505
By:
- Chilton, Ilana;
- Okur, Volkan;
- Vitiello, Giuseppina;
- Selicorni, Angelo;
- Mariani, Milena;
- Goldenberg, Alice;
- Husson, Thomas;
- Campion, Dominique;
- Lichtenbelt, Klaske D.;
- Gassen, Koen;
- Steinraths, Michelle;
- Rice, Jennifer;
- Roeder, Elizabeth R.;
- Littlejohn, Rebecca O.;
- Srour, Myriam;
- Sebire, Guillaume;
- Accogli, Andrea;
- Héron, Delphine;
- Heide, Solveig;
- Nava, Caroline
Publication type:
Article
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
Published in:
Clinical Genetics, 2021, v. 99, n. 2, p. 313, doi. 10.1111/cge.13877
By:
- Tremblay‐Laganière, Camille;
- Kaiyrzhanov, Rauan;
- Maroofian, Reza;
- Nguyen, Thi Tuyet Mai;
- Salayev, Kamran;
- Chilton, Ilana T.;
- Chung, Wendy K.;
- Madden, Jill A.;
- Phornphutkul, Chanika;
- Agrawal, Pankaj B.;
- Houlden, Henry;
- Campeau, Philippe M.
Publication type:
Article