Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type S Malik, FE Percin, D Bornholdt, B Albrecht, A Percesepe, MC Koch, ... The American Journal of Human Genetics 95 (6), 649-659, 2014 | 31 | 2014 |
Homozygous mutation in CEP19, a gene mutated in morbid obesity E Yıldız Bölükbaşı, S Mumtaz, M Afzal, U Woehlbier, S Malik, A Tolun Bardet-Biedl syndrome with predominant postaxial polydactyly. J Med Genet 55 …, 2018 | 29 | 2018 |
Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain E Yıldız Bölükbaşı, M Afzal, S Mumtaz, N Ahmad, S Malik, A Tolun American Journal of Medical Genetics Part A 173 (9), 2494-2499, 2017 | 22 | 2017 |
Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis D Bilches Medinas, S Malik, E Yıldız‐Bölükbaşı, J Borgonovo, ... The EMBO Journal 41 (2), e105531, 2022 | 17 | 2022 |
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly EY Bölükbaşı, S Mumtaz, M Afzal, U Woehlbier, S Malik, A Tolun Journal of Medical Genetics 55 (3), 189-197, 2018 | 16 | 2018 |
Association of TNF-α polymorphisms (− 857,− 863 and− 1031), TNF-α serum level and lipid profile with acne vulgaris S Younis, S Shamim, K Nisar, F Deeba, S Mehmood, S Mumtaz, ... Saudi Journal of Biological Sciences 28 (11), 6615-6620, 2021 | 13 | 2021 |
Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population S Mumtaz, HF Riaz, M Touseef, S Basit, MFU Haque, S Malik Pakistan Journal of Medical Sciences 31 (6), 1542, 2015 | 9 | 2015 |
Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation S Mumtaz, E Yıldız, K Lal, A Tolun, S Malik European Journal of Medical Genetics 60 (5), 268-274, 2017 | 8 | 2017 |
Novel EDAR mutation in tooth agenesis and variable associated features S Mumtaz, G Nalbant, EY Bölükbaşı, Z Huma, N Ahmad, A Tolun, S Malik European Journal of Medical Genetics 63 (9), 103926, 2020 | 7 | 2020 |
RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly S Mumtaz, E Yıldız, S Jabeen, A Khan, A Tolun, S Malik American Journal of Medical Genetics Part A 167 (12), 3148-3152, 2015 | 7 | 2015 |
Epidemiological study of congenital and hereditary anomalies in Sialkot District of Pakistan revealed a high incidence of limb and neurological disorders NA Bhatti, S Mumtaz, S Malik Asian Biomedicine 13 (2), 49-60, 2019 | 6 | 2019 |
A possible role of medicinal plants in finding a cure for covid-19 AS Qazi, N Akhtar, AAK Khalil, MS Ahmed, S Mumtaz Life and Science 1 (supplement), 5-5, 2020 | 5 | 2020 |
Improving fish feed by yeast solid state fermentation JI Qazi, S MUMTAZ, HA SHAKIR Punjab Univ. J. Zool 26 (1), 21-29, 2011 | 5 | 2011 |
Targeted therapy and personalized medicine RF Saeed, UA Awan, S Saeed, S Mumtaz, N Akhtar, S Aslam Therapeutic Approaches in Cancer Treatment, 177-205, 2023 | 3 | 2023 |
Third wave of COVID-19 Epidemic in Pakistan S Mumtaz, S Gul Life Sci 2 (1), 10.37185, 2021 | 3 | 2021 |
Breast Cancer: From Bench to Personalized Medicine SS Malik, N Masood Springer Nature, 2022 | 2 | 2022 |
Binge eating disorder during COVID-19 S Mumtaz, SM Farhat, RF Saeed, S Younis, M Ali Open Life Sciences 17 (1), 321-322, 2022 | 2 | 2022 |
Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects K Lal, S Mumtaz, M Bibi, Z Pervin, S Malik Pakistan Journal of Medical Sciences 30 (6), 1428, 2014 | 2 | 2014 |
Clinical and genetic attributes of congenital anomalies ascertained at a tertiary care hospital in Rawalpindi, Pakistan F Shaheen, QS Humayoon, S Malik, S Mumtaz Pakistan Journal of Medical Sciences 39 (6), 1673, 2023 | 1 | 2023 |
Utility of Personalized Medicine in the Treatment of Different Subtypes of Breast Cancer N Akhtar, UA Awan, RF Saeed, AS Qazi, S Mumtaz, S Rubnawaz Breast Cancer: From Bench to Personalized Medicine, 337-366, 2022 | 1 | 2022 |