A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens, +47

Nature Genetics

GeneticsNeuroscienceCentral Nervous SystemMedicinePotassium Homeostasis +1

Inhibition of Human Melanoma Cell Growth by the Dietary Flavonoid Fisetin Is Associated with Disruption of Wnt/β-Catenin Signaling and Decreased Mitf Levels

Deeba N. Syed, Farrukh Afaq, Nityanand Maddodi, +5

Journal of Investigative Dermatology

Chemoprevention StrategyMedicineMitf LevelsPhytochemicalWnt/β-catenin Signaling +6

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly

Naseebullah Kakar, Ingrid Goebel, Shakeela Daud, +7

European Journal of Medical Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsMolecular Genetics +2

Antibacterial activity of soaps against daily encountered bacteria

Saba Riaz, Adeel Ahmad, Shahida Hasnain

AFRICAN JOURNAL OF BIOTECHNOLOGY

Antimicrobial SusceptibilityAntibioticsBeauty SoapsAntibacterial ActivityAntibacterial Soaps +8

Pseudomonas Aeruginosa: Evaluation Of Pathogen Burden And Drug-resistance Trends In A Tertiary Care Hospital

Muhammad Saeed, Farhan Rasheed, Raja Kamran Afzal, +3

Journal of College of Physicians And Surgeons Pakistan

Diuretic Activity of <i>Trianthema portulacastrum</i> Crude Extract in Albino Rats

Mohammed Asif, Muhammad Atif, ASA Malik, +3

Tropical Journal of Pharmaceutical Research

Diagnosis of paediatric sepsis by automated blood culture system and conventional blood culture.

Adeel Ahmad, Shagufta Iram, Shahida Hussain, +1

PubMed

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.

Adeel Ahmad, Shakeela Daud, Naseebullah Kakar, +7

PubMed

Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin

Abdul Hameed Baloch, Shakeela Daud, N. Raheem, +13

Molecular Biology Reports

Gene Chek2Breast OncologyBreast Cancer RiskCancer RiskMedicine +7

Various Aspects, Patterns and Risk Factors in Breast Cancer Patients of Balochistan

Abdul Hameed Baloch, Jameela Shuja, Shakeela Daud, +9

Asian Pacific Journal of Cancer Prevention