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Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 101, doi. 10.1007/s00439-021-02406-9
By:
- Al-Hamed, Mohamed H.;
- Kurdi, Wesam;
- Khan, Rubina;
- Tulbah, Maha;
- AlNemer, Maha;
- AlSahan, Nada;
- AlMugbel, Maisoon;
- Rafiullah, Rafiullah;
- Assoum, Mirna;
- Monies, Dorota;
- Shah, Zeeshan;
- Rahbeeni, Zuhair;
- Derar, Nada;
- Hakami, Fahad;
- Almutairi, Gawaher;
- AlOtaibi, Afaf;
- Ali, Wafaa;
- AlShammasi, Amal;
- AlMubarak, Wardah;
- AlDawoud, Samia
Publication type:
Article
Sex Hormones Regulate SHANK Expression.
Published in:
Frontiers in Molecular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnmol.2018.00337
By:
- Berkel, Simone;
- Eltokhi, Ahmed;
- Fröhlich, Henning;
- Porras-Gonzalez, Diana;
- Rafiullah, Rafiullah;
- Sprengel, Rolf;
- Rappold, Gudrun A.
Publication type:
Article
Foxp1 expression is essential for sex-specific murine neonatal ultrasonic vocalization.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 8, p. 1511, doi. 10.1093/hmg/ddx055
By:
- Fröhlich, Henning;
- Rafiullah, Rafiullah;
- Schmitt, Nathalie;
- Abele, Sonja;
- Rappold, Gudrun A.
Publication type:
Article
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Published in:
Cell Death & Disease, 2024, v. 15, n. 5, p. 1, doi. 10.1038/s41419-024-06768-6
By:
- Werren, Elizabeth A.;
- Peirent, Emily R.;
- Jantti, Henna;
- Guxholli, Alba;
- Srivastava, Kinshuk Raj;
- Orenstein, Naama;
- Narayanan, Vinodh;
- Wiszniewski, Wojciech;
- Dawidziuk, Mateusz;
- Gawlinski, Pawel;
- Umair, Muhammad;
- Khan, Amjad;
- Khan, Shahid Niaz;
- Geneviève, David;
- Lehalle, Daphné;
- van Gassen, K. L. I.;
- Giltay, Jacques C.;
- Oegema, Renske;
- van Jaarsveld, Richard H.;
- Rafiullah, Rafiullah
Publication type:
Article
Controversy on the management of patients carrying RET p.V804M mutation.
Published in:
Endocrine (1355008X), 2022, v. 75, n. 2, p. 478, doi. 10.1007/s12020-021-02895-8
By:
- Alzahrani, Ali S.;
- Alswailem, Meshael;
- Alghamdi, Balgees;
- Rafiullah, Rafiullah;
- Aldawish, Mohammed;
- Al-Hindi, Hindi
Publication type:
Article
Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.
Published in:
Medicina (1010660X), 2023, v. 59, n. 1, p. 103, doi. 10.3390/medicina59010103
By:
- Almazroea, Abdulhadi;
- Ijaz, Ambreen;
- Aziz, Abdul;
- Mushtaq Yasinzai, Muhammad;
- Rafiullah, Rafiullah;
- Rehman, Fazal Ur;
- Daud, Shakeela;
- Shaikh, Rozeena;
- Ayub, Muhammad;
- Wali, Abdul
Publication type:
Article

Found: 6

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Sex Hormones Regulate SHANK Expression.

Foxp1 expression is essential for sex-specific murine neonatal ultrasonic vocalization.

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Controversy on the management of patients carrying RET p.V804M mutation.

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.