Clinical and genetic attributes of congenital anomalies ascertained at a tertiary care hospital in Rawalpindi, Pakistan

por Shaheen, Fatima, Humayoon, Qaisar Shehzad, Malik, Sajid, Mumtaz, Sara
Publicado 2023

Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias

por Koprulu, Mine, Shabbir, Rana Muhammad Kamran, Mumtaz, Sara, Tolun, Aslıhan, Malik, Sajid
Publicado 2023

Binge eating disorder during COVID-19

por Mumtaz, Sara, Farhat, Syeda Mehpara, Saeed, Rida Fatima, Younis, Sidra, Ali, Mahwish
Publicado 2022

Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects

por Lal, Karmoon, Mumtaz, Sara, Rehman, Attiq-ur-, Bibi, Maryam, Pervin, Zahida, Malik, Sajid
Publicado 2014

A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family

por Shabbir, Rana Muhammad Kamran, Nalbant, Gökhan, Zaman, Qamar, Tolun, Aslıhan, Malik, Sajid, Mumtaz, Sara
Publicado 2023

Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population

por Mumtaz, Sara, Riaz, Hafiza Fizzah, Touseef, Mohammad, Basit, Sulman, Haque, Muhammad Faiyaz Ul, Malik, Sajid
Publicado 2015

Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manif...

por Naqvi, Syeda Farwa, Yıldız-Bölükbaşı, Esra, Afzal, Muhammad, Nalbant, Gökhan, Mumtaz, Sara, Tolun, Aslıhan, Malik, Sajid
Publicado 2023

Association of TNF-α polymorphisms (−857, −863 and −1031), TNF-α serum level and lipid profile with acne vulgaris

por Younis, Sidra, Shamim, Sana, Nisar, Kanwal, Deeba, Farah, Mehmood, Sabba, Mumtaz, Sara, Blumenberg, Miroslav, Javed, Qamar
Publicado 2021

A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family

por Shahid, Hamna, Shakoor, Nazish, Bibi, Anisa, Qazi, Asma Saleem, Saeed, Rida Fatima, Nawaz, Aqeela, Malik, Sajid, Mumtaz, Sara
Publicado 2023