OpenURL Connection Search

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

PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.
Published in:
Human Genetics, 2023, v. 142, n. 4, p. 477, doi. 10.1007/s00439-023-02527-3
By:
- Shamseldin, Hanan E.;
- Derar, Nada;
- Alzaidan, Hamad;
- AlHathal, Naif;
- Alfalah, Abdullah;
- Abdulwahab, Firdous;
- Alzaid, Tariq;
- Alkeraye, Salim;
- Alobaida, Saud A.;
- Alkuraya, Fowzan S.
Publication type:
Article
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
Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome.
Published in:
Clinical Genetics, 2024, v. 106, n. 2, p. 209, doi. 10.1111/cge.14540
By:
- Zarate, Yuri A.;
- Bosanko, Katherine;
- Derar, Nada;
- Fish, Jennifer L.
Publication type:
Article
Characterizing the morbid genome of ciliopathies.
Published in:
Genome Biology, 2016, v. 17, p. 1, doi. 10.1186/s13059-016-1099-5
By:
- Shaheen, Ranad;
- Katarzyna Szymanska;
- Basu, Basudha;
- Patel, Nisha;
- Ewida, Nour;
- Faqeih, Eissa;
- Hashem, Amal Al;
- Derar, Nada;
- Alsharif, Hadeel;
- Aldahmesh, Mohammed A.;
- Alazami, Anas M.;
- Hashem, Mais;
- Ibrahim, Niema;
- Abdulwahab, Firdous M.;
- Sonbul, Rawda;
- Hisham Alkuraya;
- Alnemer, Maha;
- Tala, Saeed Al;
- Al-Husain, Muneera;
- Morsy, Heba
Publication type:
Article
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Published in:
Genome Biology, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s13059-020-02053-9
By:
- Maddirevula, Sateesh;
- Kuwahara, Hiroyuki;
- Ewida, Nour;
- Shamseldin, Hanan E.;
- Patel, Nisha;
- Alzahrani, Fatema;
- AlSheddi, Tarfa;
- AlObeid, Eman;
- Alenazi, Mona;
- Alsaif, Hessa S.;
- Alqahtani, Maha;
- AlAli, Maha;
- Al Ali, Hatoon;
- Helaby, Rana;
- Ibrahim, Niema;
- Abdulwahab, Firdous;
- Hashem, Mais;
- Hanna, Nadine;
- Monies, Dorota;
- Derar, Nada
Publication type:
Article

Found: 5

PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.

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.

Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome.

Characterizing the morbid genome of ciliopathies.

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.