Thyroid Hormone Resistance due to a Novel De Novo Mutation in Thyroid Hormone Receptor Alpha: First Case Report from the Middle East and North Africa

por Al Shidhani, Azza, Ullah, Irfan, AlSaffar, Hussain, Al Kindi, Adila, Al Nabhani, Hameeda, Al Yaarubi, Saif
Publicado 2021

A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

por Al-Kindi, Adila, Kizhakkedath, Praseetha, Xu, Huifang, John, Anne, Sayegh, Abeer Al, Ganesh, Anuradha, Al-Awadi, Maha, Al-Anbouri, Lamya, Al-Gazali, Lihadh, Leitinger, Birgit, Ali, Bassam R
Publicado 2014

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

por Schnabel, Franziska, Schuler, Elisabeth, Al-Maawali, Almundher, Chaurasia, Ankur, Syrbe, Steffen, Al-Kindi, Adila, Bhavani, Gandham SriLakshmi, Shukla, Anju, Altmüller, Janine, Nürnberg, Peter, Banka, Siddharth, Girisha, Katta M., Li, Yun, Wollnik, Bernd, Yigit, Gökhan
Publicado 2023

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families

por Al-Kasbi, Ghalia, Al-Murshedi, Fathiya, Al-Kindi, Adila, Al-Hashimi, Nadia, Al-Thihli, Khalid, Al-Saegh, Abeer, Al-Futaisi, Amna, Al-Mamari, Watfa, Al-Asmi, Abdullah, Bruwer, Zandre, Al-Kharusi, Khalsa, Al-Rashdi, Samiya, Zadjali, Fahad, Al-Yahyaee, Said, Al-Maawali, Almundher
Publicado 2022