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Author/Creator Naz, Sadaf

11. Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia. (19th July 2022)

Authors:
Reilly, Madeline Louise; Ain, Noor ul; Muurinen, Mari; Tata, Alice; Huber, Céline; Simon, Marleen; Ishaq, Tayyaba; Shaw, Nick; Rusanen, Salla; Pekkinen, Minna; Högler, Wolfgang; Knapen, Maarten F. C. M.; van den Born, Myrthe; Saunier, Sophie; Naz, Sadaf; Cormier‐Daire, Valérie; Benmerah, Alexandr...
Journal:
Journal of bone and mineral research
Issue:
Volume 37:Number 9(2022)
Page Start:
1642
Record Type:
Journal Article
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12. Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature. Issue 1 (30th November 2020)

Authors:
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
Journal:
Human mutation
Issue:
Volume 42:Issue 1(2021)
Page Start:
89
Record Type:
Journal Article
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17. Variants of human CLDN9 cause mild to profound hearing loss. Issue 10 (1st August 2021)

Authors:
Ramzan, Memoona; Philippe, Christophe; Belyantseva, Inna A.; Nakano, Yoko; Fenollar‐Ferrer, Cristina; Tona, Risa; Yousaf, Rizwan; Basheer, Rasheeda; Imtiaz, Ayesha; Faridi, Rabia; Munir, Zunaira; Idrees, Hafiza; Salman, Midhat; Nambot, Sophie; Vitobello, Antonio; Kartti, Souad; Zarrik, Oumaima; W...
Journal:
Human mutation
Issue:
Volume 42:Issue 10(2021)
Page Start:
1321
Record Type:
Journal Article
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