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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22627-w
By:
- Kour, Sukhleen;
- Rajan, Deepa S.;
- Fortuna, Tyler R.;
- Anderson, Eric N.;
- Ward, Caroline;
- Lee, Youngha;
- Lee, Sangmoon;
- Shin, Yong Beom;
- Chae, Jong-Hee;
- Choi, Murim;
- Siquier, Karine;
- Cantagrel, Vincent;
- Amiel, Jeanne;
- Stolerman, Elliot S.;
- Barnett, Sarah S.;
- Cousin, Margot A.;
- Castro, Diana;
- McDonald, Kimberly;
- Kirmse, Brian;
- Nemeth, Andrea H.
Publication type:
Article
'CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases' American Journal of Medical Genetics Part A. 164:2557-2566, 2014.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1682, doi. 10.1002/ajmg.a.36860
By:
- Wenger, Tara L.;
- Harr, Margaret;
- Ricciardi, Stefania;
- Bhoj, Elizabeth;
- Santani, Avni;
- Adam, Margaret P.;
- Barnett, Sarah S.;
- Ganetzky, Rebecca;
- McDonald‐McGinn, Donna M.;
- Battaglia, Domenica;
- Bigoni, Stefania;
- Selicorni, Angelo;
- Sorge, Giovanni;
- Monica, Matteo Della;
- Mari, Francesca;
- Andreucci, Elena;
- Romano, Silvia;
- Cocchi, Guido;
- Savasta, Salvatore;
- Malbora, Baris
Publication type:
Article
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2557, doi. 10.1002/ajmg.a.36696
By:
- Wenger, Tara L.;
- Harr, Margaret;
- Ricciardi, Stefania;
- Bhoj, Elizabeth;
- Santani, Avni;
- Adam, Margaret P.;
- Barnett, Sarah S.;
- Ganetzky, Rebecca;
- McDonald‐McGinn, Donna M.;
- Battaglia, Domenica;
- Bigoni, Stefania;
- Selicorni, Angelo;
- Sorge, Giovanni;
- Monica, Matteo Della;
- Mari, Francesca;
- Andreucci, Elena;
- Romano, Silvia;
- Cocchi, Guido;
- Savasta, Salvatore;
- Malbora, Baris
Publication type:
Article
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.
Published in:
2016
By:
- Tanaka, Tomoko;
- Harris, Catharine J.;
- Barnett, Sarah S.;
- Litofsky, N. Scott
Publication type:
Case Study
Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2108, doi. 10.1002/humu.23870
By:
- Shaheen, Ranad;
- Mark, Paul;
- Prevost, Christopher T.;
- AlKindi, Adila;
- Alhag, Ahmad;
- Estwani, Fatima;
- Al‐Sheddi, Tarfa;
- Alobeid, Eman;
- Alenazi, Mona M.;
- Ewida, Nour;
- Ibrahim, Niema;
- Hashem, Mais;
- Abdulwahab, Firdous;
- Bryant, Emily M.;
- Spinelli, Egidio;
- Millichap, John;
- Barnett, Sarah S.;
- Kearney, Hutton M.;
- Accogli, Andrea;
- Scala, Marcello
Publication type:
Article

Found: 5

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

'CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases' American Journal of Medical Genetics Part A. 164:2557-2566, 2014.

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.

A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.

Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34.