Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report

by Mohammad M. Al-Qattan, Doaa F. Andejani, Nadia A. Sakati, Khushnooda Ramzan, Faiqa Imtiaz
Published 2018-01-01

Exome sequencing revealed a novel loss‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

by Muhammad Umair, Naveed Wasif, Alia M. Albalawi, Khushnooda Ramzan, Majid Alfadhel, Wasim Ahmad, Sulman Basit
Published 2019-07-01

Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers–Danlos Syndrome: A Report of a Saudi Founder Mutation

by Ahmad Almatrafi, Jamil A. Hashmi, Fatima Fadhli, Asma Alharbi, Sibtain Afzal, Khushnooda Ramzan, Sulman Basit
Published 2020-12-01

A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

by Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah, Salma M. Wakil, Arshad Jamal, Sulman Basit, Ahmed Bilal Waqar
Published 2020-01-01

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly

by Jamil A. Hashmi, Khalid M. Al-Harbi, Khushnooda Ramzan, Alia M. Albalawi, Amir Mehmood, Mohammed I. Samman, Sulman Basit
Published 2016-11-01

Features and behavior of valvular abnormalities in adolescent and adult patients in mucopolysaccharidosis: an echocardiographic study

by Domenico Galzerano, Seemi Saba, Abdullah Al Sergani, Olga Vriz, Khalil Alghalayini, Khushnooda Ramzan, Isra Elmahi, Antonio Cittadini, Giovanni Di Salvo, Valeria Pergola
Published 2021-08-01

Identification of Novel <i>CDH23</i> Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss

by Khushnooda Ramzan, Nouf S. Al-Numair, Sarah Al-Ageel, Lina Elbaik, Nadia Sakati, Selwa A. F. Al-Hazzaa, Mohammed Al-Owain, Faiqa Imtiaz
Published 2020-12-01

25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations

by Sarah Bakhamis, Faiqa Imtiaz, Khushnooda Ramzan, Edward De Vol, Osamah Al-Sagheir, Abdulrahman Al-Rajhi, Abdullah Alashwal, Bassam Bin Abbas, Nadia Sakati, Afaf Al-Sagheir
Published 2021-07-01

Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population

by Abdullah M. Aldalaan, Khushnooda Ramzan, Sarfraz A. Saleemi, Ihab Weheba, Laila Alquait, Abeer Abdelsayed, Fatima Alzubi, Hamdeia Zaytoun, Nadeen Alharbi, Mohammed Al-Owain, Faiqa Imtiaz
Published 2021-07-01

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

by Salma M. Wakil, Dorota Monies, Samya Hagos, Fahad Al-Ajlan, Josef Finsterer, Aisha Al Qahtani, Khushnooda Ramzan, Rawan Al Humaidy, Mohamed A. Al-Muhaizea, Brian Meyer, Saeed A. Bohlega
Published 2018-01-01

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

by Faiqa Imtiaz, Abeer Al-Mostafa, Rabab Allam, Khushnooda Ramzan, Nada Al-Tassan, Asma I. Tahir, Nouf S. Al-Numair, Mohamed H. Al-Hamed, Zuhair Al-Hassnan, Mohammad Al-Owain, Hamad Al-Zaidan, Mohammad Al-Amoudi, Alya Qari, Ameera Balobaid, Moeenaldeen Al-Sayed
Published 2017-06-01

Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection

by Abeer E. Mustafa, Tariq Faquih, Batoul Baz, Rana Kattan, Abdulelah Al-Issa, Asma I. Tahir, Faiqa Imtiaz, Khushnooda Ramzan, Moeenaldeen Al-Sayed, Mohammed Alowain, Zuhair Al-Hassnan, Hamad Al-Zaidan, Mohamed Abouelhoda, Bashayer R. Al-Mubarak, Nada A. Al Tassan
Published 2018-05-01