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Sara Mumtaz
Sara Mumtaz
NUMS, Pakistan
Verified email at numspak.edu.pk
Title
Cited by
Cited by
Year
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
312014
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
292018
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
222017
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
172022
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
162018
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
132021
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
92015
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
82017
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
72020
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
72015
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
62019
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
52020
Improving fish feed by yeast solid state fermentation
JI Qazi, S MUMTAZ, HA SHAKIR
Punjab Univ. J. Zool 26 (1), 21-29, 2011
52011
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
32023
Third wave of COVID-19 Epidemic in Pakistan
S Mumtaz, S Gul
Life Sci 2 (1), 10.37185, 2021
32021
Breast Cancer: From Bench to Personalized Medicine
SS Malik, N Masood
Springer Nature, 2022
22022
Binge eating disorder during COVID-19
S Mumtaz, SM Farhat, RF Saeed, S Younis, M Ali
Open Life Sciences 17 (1), 321-322, 2022
22022
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
22014
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
12023
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
12022
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