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A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder.
Published in:
2017
By:
- Shamseldin, Hanan E.;
- Alasmari, Ali;
- Salih, Mohammed A.;
- Samman, Manar M.;
- Mian, Shahid A.;
- Alshidi, Tarfa;
- Ibrahim, Niema;
- Hashem, Mais;
- Faqeih, Eissa;
- Al-Mohanna, Futwan;
- Alkuraay, Fowzan S.;
- Alkuraya, Fowzan S
Publication type:
journal article
Human 'knockouts' of CSF3 display severe congenital neutropenia.
Published in:
British Journal of Haematology, 2023, v. 203, n. 3, p. 477, doi. 10.1111/bjh.19054
By:
- Khouj, Ebtissal;
- Marafi, Dana;
- Aljamal, Bayan;
- Hajiya, Anwar;
- Elshafie, Reem M.;
- Hashem, Mais O.;
- Abdulwahab, Firdous;
- Jaafar, Amal;
- Alshidi, Tarfa;
- Aboelanine, Ashraf H.;
- Awaji, Ali;
- Alkuraya, Fowzan S.
Publication type:
Article
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
Published in:
Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40909-3
By:
- AlAbdi, Lama;
- Maddirevula, Sateesh;
- Shamseldin, Hanan E.;
- Khouj, Ebtissal;
- Helaby, Rana;
- Hamid, Halima;
- Almulhim, Aisha;
- Hashem, Mais O.;
- Abdulwahab, Firdous;
- Abouyousef, Omar;
- Alqahtani, Mashael;
- Altuwaijri, Norah;
- Jaafar, Amal;
- Alshidi, Tarfa;
- Alzahrani, Fatema;
- Al-Sagheir, Afaf I.;
- Mansour, Ahmad M.;
- Alawaji, Ali;
- Aldhilan, Amal;
- Alhashem, Amal
Publication type:
Article
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01270-8
By:
- AlAbdi, Lama;
- Shamseldin, Hanan E.;
- Khouj, Ebtissal;
- Helaby, Rana;
- Aljamal, Bayan;
- Alqahtani, Mashael;
- Almulhim, Aisha;
- Hamid, Halima;
- Hashem, Mais O.;
- Abdulwahab, Firdous;
- Abouyousef, Omar;
- Jaafar, Amal;
- Alshidi, Tarfa;
- Al-Owain, Mohammed;
- Alhashem, Amal;
- Al Tala, Saeed;
- Khan, Arif O.;
- Mardawi, Elham;
- Alkuraya, Hisham;
- Faqeih, Eissa
Publication type:
Article
Confirming the recessive inheritance of PERP‐related erythrokeratoderma.
Published in:
Clinical Genetics, 2020, v. 97, n. 4, p. 661, doi. 10.1111/cge.13699
By:
- Patel, Nisha;
- Alkeraye, Salim;
- Alobeid, Eman;
- Alshidi, Tarfa;
- Helaby, Rana;
- Abdulwahab, Firdous;
- Shamseldin, Hanan E.;
- Alkuraya, Fowzan S.
Publication type:
Article
Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects.
Published in:
Molecular Cytogenetics (17558166), 2011, v. 4, n. 1, p. 9, doi. 10.1186/1755-8166-4-9
By:
- Al-Zahrani, Jawaher;
- Al-Dosari, Naji;
- AbuDheim, Nada;
- Alshidi, Tarfa A.;
- Colak, Dilek;
- Al-Habit, Ola;
- Al-Odaib, Ali;
- Sakati, Nadia;
- Meyer, Brian;
- Ozand, Pinar T.;
- Kaya, Namik
Publication type:
Article
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)- creating mutation.
Published in:
Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1274-3
By:
- Patel, Nisha;
- Khan, Arif O.;
- Al-Saif, Maher;
- Moghrabi, Walid N.;
- AlMaarik, Balsam M.;
- Ibrahim, Niema;
- Abdulwahab, Firdous;
- Hashem, Mais;
- Alshidi, Tarfa;
- Alobeid, Eman;
- Alomar, Rana A.;
- Al-Harbi, Saad;
- Abouelhoda, Mohamed;
- Khabar, Khalid S. A.;
- Alkuraya, Fowzan S.
Publication type:
Article

Found: 7

A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder.

Human 'knockouts' of CSF3 display severe congenital neutropenia.

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.

Confirming the recessive inheritance of PERP‐related erythrokeratoderma.

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects.

A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)- creating mutation.