Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature
Ain, Noor U., Muhammad, Niaz, Dianatpour, Mehdi, Baroncelli, Marta, Iqbal, Muddassar, Fard, Mohammad A. F., Bukhari, Ihtisham, Ahmed, Sufian, Hajipour, Massoumeh, Tabatabaie, Zahra, Foroutan, Hamidreza, Nilsson, Ola, Faghihi, Mohammad A., Makitie, Outi, Naz, Sadaf
Published in Human mutation (01.01.2021)
Published in Human mutation (01.01.2021)
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Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan
Salman, Midhat, Bashir, Rasheeda, Imtiaz, Ayesha, Maqsood, Azra, Mujtaba, Ghulam, Iqbal, Muddassar, Naz, Sadaf
Published in European archives of oto-rhino-laryngology (01.08.2015)
Published in European archives of oto-rhino-laryngology (01.08.2015)
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Genetic causes of moderate to severe hearing loss point to modifiers
Naz, S., Imtiaz, A., Mujtaba, G., Maqsood, A., Bashir, R., Bukhari, I., Khan, M.R., Ramzan, M., Fatima, A., Rehman, A.U., Iqbal, M., Chaudhry, T., Lund, M., Brewer, C.C., Morell, R.J., Friedman, T.B.
Published in Clinical genetics (01.04.2017)
Published in Clinical genetics (01.04.2017)
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Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux
Ain, Noor ul, Iqbal, Muddassar, Valta, Helena, Emerling, Christopher A., Ahmed, Sufian, Makitie, Outi, Naz, Sadaf
Published in European journal of medical genetics (01.09.2019)
Published in European journal of medical genetics (01.09.2019)
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Mutations of GJB2 Encoding Connexin 26 Contribute to Nonsyndromic Moderate and Severe Hearing Loss in Pakistan
Salman, Midhat, Bashir, Rasheeda, Imtiaz, Ayesha, Maqsood, Azra, Mujtaba, Ghulam, Iqbal, Muddassar, Naz, Sadaf
Published in European archives of oto-rhino-laryngology (31.01.2015)
Published in European archives of oto-rhino-laryngology (31.01.2015)
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