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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
Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1547, doi. 10.1002/ajmg.a.61260
By:
- Kariminejad, Ariana;
- Vahidnezhad, Hassan;
- Ghaderi‐Sohi, Siavash;
- Ghannadan, Ali R.;
- Youssefian, Leila;
- Parsimehr, Elham;
- Faraji Zonooz, Mehrshid;
- Kariminejad, Mohammad H.;
- Uitto, Jouni;
- Najmabadi, Hossein;
- Hennekam, Raoul C.
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
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Published in:
Archives of Iranian Medicine (AIM), 2022, v. 25, n. 12, p. 788, doi. 10.34172/aim.2022.124
By:
- Ehtesham, Naeim;
- Mosallaei, Meysam;
- Beheshtian, Maryam;
- Khoshbakht, Shahrouz;
- Fadaee, Mahsa;
- Vazehan, Raheleh;
- Zonooz, Mehrshid Faraji;
- Karimzadeh, Parvaneh;
- Kahrizi, Kimia;
- Najmabadi, Hossein
Publication type:
Article
CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.
Published in:
Archives of Iranian Medicine (AIM), 2021, v. 24, n. 5, p. 364, doi. 10.34172/aim.2021.53
By:
- Khoshbakht, Shahrouz;
- Beheshtian, Maryam;
- Fattahi, Zohreh;
- Bazazzadegan, Niloofar;
- Parsimehr, Elham;
- Fadaee, Mahsa;
- Vazehan, Raheleh;
- Zonooz, Mehrshid Faraji;
- Abolhassani, Ayda;
- Makvand, Mina;
- Kariminejad, Ariana;
- Celik, Arzu;
- Kahrizi, Kimia;
- Najmabadi, Hossein
Publication type:
Article
Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study.
Published in:
2024
By:
- Khoeini, Tara;
- Kariminejad, Ariana;
- Nilipour, Yalda;
- Ariaei, Armin;
- Najmabadi, Hossein;
- Arabshahi, Mojtaba;
- Faraji Zonooz, Mehrshid;
- Haghi Ashtiani, Bahram
Publication type:
Case Study
A GLI3 variant leading to polydactyly in heterozygotes and Pallister‐Hall‐like syndrome in a homozygote.
Published in:
Clinical Genetics, 2020, v. 97, n. 6, p. 915, doi. 10.1111/cge.13730
By:
- Kariminejad, Ariana;
- Ghaderi‐Sohi, Siavash;
- Keshavarz, Elham;
- Hashemi, Seyed Abolghasem;
- Parsimehr, Elham;
- Szenker‐Ravi, Emmanuelle;
- Khatoo, Muznah;
- Faraji Zonooz, Mehrshid;
- Reversade, Bruno;
- Najmabadi, Hossein;
- Hennekam, Raoul C.
Publication type:
Article
Identification of disease‐causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
Published in:
Clinical Genetics, 2019, v. 95, n. 6, p. 718, doi. 10.1111/cge.13549
By:
- Beheshtian, Maryam;
- Fattahi, Zohreh;
- Fadaee, Mahsa;
- Vazehan, Raheleh;
- Jamali, Payman;
- Parsimehr, Elham;
- Kamgar, Mahboubeh;
- Zonooz, Mehrshid Faraji;
- Mahdavi, Shokouh Sadat;
- Kalhor, Zahra;
- Arzhangi, Sanaz;
- Abedini, Seyedeh Sedigheh;
- Kermani, Farahnaz Sabbagh;
- Mojahedi, Faezeh;
- Kalscheuer, Vera M.;
- Ropers, Hans‐Hilger.;
- Kariminejad, Ariana;
- Najmabadi, Hossein;
- Kahrizi, Kimia
Publication type:
Article
De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.
Published in:
Archives of Iranian Medicine (AIM), 2017, v. 20, n. 9, p. 617
By:
- Edizadeh, Masoud;
- Vazehan, Raheleh;
- Javadi, Fatemeh;
- Dehdahsi, Shima;
- Fadaee, Mahsa;
- Zonooz, Mehrshid Faraji;
- Parsimehr, Elham;
- Ahangari, Fatemeh;
- Abolhassani, Ayda;
- Kalhor, Zahra;
- Fattahi, Zohreh;
- Beheshtian, Maryam;
- Kariminejad, Ariana;
- Akbari, Mohammad Reza;
- Najmabadi, Hossein;
- Nafissi, Shariar
Publication type:
Article

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