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Understanding the impact of 1q21.1 copy number variant.
Published in:
2011
By:
- Harvard, Chansonette;
- Strong, Emma;
- Mercier, Eloi;
- Colnaghi, Rita;
- Alcantara, Diana;
- Chow, Eva;
- Martell, Sally;
- Tyson, Christine;
- Hrynchak, Monica;
- McGillivray, Barbara;
- Hamilton, Sara;
- Marles, Sandra;
- Mhanni, Aziz;
- Dawson, Angelika J;
- Pavlidis, Paul;
- Qiao, Ying;
- Holden, Jeanette J;
- Lewis, Suzanne M E;
- O'Driscoll, Mark;
- Rajcan-Separovic, Evica
Publication type:
journal article
A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1514
By:
- Al Shamsi, Aisha;
- Al Hassani, Noura;
- Hamchou, Moustafa;
- Almazrouei, Raya;
- Mhanni, Aziz
Publication type:
Article
Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: Geographic clustering in Northern Canada.
Published in:
Paediatrics & Child Health (1205-7088), 2017, v. 22, n. 8, p. 445, doi. 10.1093/pch/pxx118
By:
- Khaper, Tanya;
- Bunge, Martin;
- Clark, Ian;
- Rafay, Mubeen Fatima;
- Mhanni, Aziz;
- Kirouac, Nicole;
- Sharma, Atul;
- Rodd, Celia;
- Wicklow, Brandy
Publication type:
Article
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 4, p. 614, doi. 10.1093/hmg/ddab247
By:
- Sleiman, Sophie;
- Marshall, Aren E;
- Dong, Xiaomin;
- Mhanni, Aziz;
- Alidou-D'Anjou, Ismaël;
- Frosk, Patrick;
- Marin, Samantha E;
- Stark, Zornitza;
- Bigio, Marc R Del;
- McBride, Arran;
- Sadedin, Simon;
- Gallacher, Lyndon;
- Consortium, Care4Rare Canada;
- Christodoulou, John;
- Boycott, Kym M;
- Dragon, François;
- Kernohan, Kristin D
Publication type:
Article
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1) gene.
Published in:
Human Mutation, 2017, v. 38, n. 5, p. 511, doi. 10.1002/humu.23196
By:
- Kernohan, Kristin D.;
- Dyment, David A.;
- Pupavac, Mihaela;
- Cramer, Zvi;
- McBride, Arran;
- Bernard, Genevieve;
- Straub, Isabella;
- Tetreault, Martine;
- Hartley, Taila;
- Huang, Lijia;
- Sell, Erick;
- Majewski, Jacek;
- Rosenblatt, David S.;
- Shoubridge, Eric;
- Mhanni, Aziz;
- Myers, Tara;
- Proud, Virginia;
- Vergano, Samanta;
- Spangler, Brooke;
- Farrow, Emily
Publication type:
Article
Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene.
Published in:
Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 5, p. 1, doi. 10.1101/mcs.a006106
By:
- Hasnain, Afia;
- Burnett, Sherri;
- Agatep, Ronald;
- Spriggs, Elizabeth;
- Chodirker, Bernard;
- Mhanni, Aizeddin (Aziz) A.
Publication type:
Article

Found: 6

Understanding the impact of 1q21.1 copy number variant.

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.

Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: Geographic clustering in Northern Canada.

Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1) gene.

Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene.