OpenURL Connection Search

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

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.
Published in:
2017
By:
- Kariminejad, Ariana;
- Dahl-Halvarsson, Martin;
- Ravenscroft, Gianina;
- Afroozan, Fariba;
- Keshavarz, Elham;
- Goullée, Hayley;
- Davis, Mark R.;
- Zonooz, Mehrshid Faraji;
- Najmabadi, Hossein;
- Laing, Nigel G.;
- Tajsharghi, Homa;
- Faraji Zonooz, Mehrshid
Publication type:
journal article
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Published in:
International Journal of Molecular Sciences, 2017, v. 18, n. 3, p. 635, doi. 10.3390/ijms18030635
By:
- Kariminejad, Ariana;
- Afroozan, Fariba;
- Bozorgmehr, Bita;
- Ghanadan, Alireza;
- Akbaroghli, Susan;
- Khorshid, Hamid Reza Khorram;
- Mojahedi, Faezeh;
- Setoodeh, Aria;
- Loh, Abigail;
- Yu Xuan Tan;
- Escande-Beillard, Nathalie;
- Malfait, Fransiska;
- Reversade, Bruno;
- Gardeitchik, Thatjana;
- Morava, Eva
Publication type:
Article
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00393-0
By:
- Abolhassani, Ayda;
- Fattahi, Zohreh;
- Beheshtian, Maryam;
- Fadaee, Mahsa;
- Vazehan, Raheleh;
- Ahangari, Fatemeh;
- Dehdahsi, Shima;
- Faraji Zonooz, Mehrshid;
- Parsimehr, Elham;
- Kalhor, Zahra;
- Peymani, Fatemeh;
- Mozaffarpour Nouri, Maryam;
- Babanejad, Mojgan;
- Noudehi, Khadijeh;
- Fatehi, Fatemeh;
- Zamanian Najafabadi, Shima;
- Afroozan, Fariba;
- Yazdan, Hilda;
- Bozorgmehr, Bita;
- Azarkeivan, Azita
Publication type:
Article
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00393-0
By:
- Abolhassani, Ayda;
- Fattahi, Zohreh;
- Beheshtian, Maryam;
- Fadaee, Mahsa;
- Vazehan, Raheleh;
- Ahangari, Fatemeh;
- Dehdahsi, Shima;
- Faraji Zonooz, Mehrshid;
- Parsimehr, Elham;
- Kalhor, Zahra;
- Peymani, Fatemeh;
- Mozaffarpour Nouri, Maryam;
- Babanejad, Mojgan;
- Noudehi, Khadijeh;
- Fatehi, Fatemeh;
- Zamanian Najafabadi, Shima;
- Afroozan, Fariba;
- Yazdan, Hilda;
- Bozorgmehr, Bita;
- Azarkeivan, Azita
Publication type:
Article
Prenatal Screening for Aneuploidies Using QF-PCR and Karyotyping: A Comprehensive Study in Iranian Population.
Published in:
2015
By:
- Rostami, Parvin;
- Valizadegan, Sahar;
- Ghalandary, Maryam;
- Mehrjouy, Mana M.;
- Nia, Giti Esmail;
- Khalili, Soheila;
- Shahmoradi, Shahrzad Sadat;
- Imanian, Hashem;
- Hadavi, Valeh;
- Ghaderi-Sohi, Siavash;
- Almadani, Navid;
- Afroozan, Fariba;
- Kariminejad, Ariana;
- Kariminejad, Roxana;
- Najmabadi, Hossein
Publication type:
Journal Article
Prenatal Screening for Aneuploidies Using QF-PCR and Karyotyping: A Comprehensive Study in Iranian Population.
Published in:
Archives of Iranian Medicine (AIM), 2015, v. 18, n. 5, p. 296
By:
- Rostami, Parvin;
- Valizadegan, Sahar;
- Ghalandary, Maryam;
- Mehrjouy, Mana M.;
- Nia, Giti Esmail;
- Khalili, Soheila;
- Shahmoradi, Shahrzad Sadat;
- Imanian, Hashem;
- Hadavi, Valeh;
- Ghaderi-Sohi, Siavash;
- Almadani, Navid;
- Afroozan, Fariba;
- Kariminejad, Ariana;
- Kariminejad, Roxana;
- Najmabadi, Hossein
Publication type:
Article

Found: 6

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Prenatal Screening for Aneuploidies Using QF-PCR and Karyotyping: A Comprehensive Study in Iranian Population.

Prenatal Screening for Aneuploidies Using QF-PCR and Karyotyping: A Comprehensive Study in Iranian Population.