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7 resultsUpdated October 23, 2026
2

Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability

European Journal of Medical Genetics 63(4) (2020)

Sara Banihashemi; Maryam Tahmasebi Birgani; Javad Mohammadi Asl; Mohammadreza Hajjari

3

Prevalence and Association of Different Levels of Intellectual Disability with Prenatal, Perinatal, Neonatal and Postnatal Factors

Proceedings of the Pakistan Academy of Sciences B Life and Environmental Sciences 58(3) (2022)

Shagufta Naz; Nazia Ibrahim; Saima Sharif; Naila Bashir; Eesha Sajjad; Iqra Asghar; Saba Irshad; Sabika Firasat; Haiba Kaul; Sadia Sarwar

4

Label free quantitative proteomic profiling of serum samples of intellectually disabled young patients revealed dysregulation of complement coagulation and cholesterol cascade systems

Metabolic Brain Disease 39(5) (2024)

Soma Vankwani; Munazza Raza Mirza; Fazli Rabbi Awan; Muneeza Zafar; Arkadiusz Nawrocki; Muhammad Wasim; Haq Nawaz Khan; Hina Ayesha; Martin R. Larsen; Muhammad Iqbal Choudhary

5

Whole exome sequencing reveals pathogenic variants in KL and PUDP genes as the cause of intellectual disability in an Iranian family

Gene Reports 24 (2021)

Fatemeh Gholipour; Koh-ichiro Yoshiura; Mohammadali Hosseinpourfeizi; Naser Elmi; Shahram Teimourian; Reza Safaralizadeh

6

Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder

Frontiers in Genetics 14 (2024)

Tayyaba Afsar; Hongxia Fu; Hammal Khan; Zain Ali; Zamrud Zehri; Gohar Zaman; Safdar Abbas; Arif Mahmood; Qamre Alam; Junjian Hu; Suhail Razak; Muhammad Umair

7

Exploring Proteomic Alterations in Intellectual Disability: Insights from Hyperlipidemia and Hyperphosphatasia Subgroups

NeuroMolecular Medicine 27(1) (2025)

Soma Vankwani; Munazza Raza Mirza; Muhammad Tahir; Muhammad Wasim; Sajid Ali Rajput; Haq Nawaz Khan; Martin R. Larsen; Muhammad Iqbal Choudhary; Fazli Rabbi Awan