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1 . Academic Journal
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
저자
by
Cali, Elisa
;
Quirin, Tania
;
Rocca, Clarissa
;
Efthymiou, Stephanie
;
Riva, Antonella
, et al.
소스
In
Genetics in Medicine
September 2024
Full Text (ScienceDirect)
Web of Science
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7 . Academic Journal
Spectrum of UGT1A1 variants in Pakistani children affected with inherited unconjugated hyperbilirubinemias
저자
by
Zubaida, Bibi
;
Cheema, Huma Arshad
;
Hashmi, Muhammad Almas
;
Naeem, Muhammad
.
소스
In
Clinical Biochemistry
July 2019 69:30-35
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6 . Report
Diabetes and CFAP126 gene mutation; are they really linked together?
저자
by
Arshad, Kashan
;
Naseem, Aamir
;
Hussain, Syed Saddam
;
Mehak, Noor-ul-ain
;
Butt, Awais Muhammad
, et al.
소스
Journal of Pediatric Endocrinology and Metabolism
.
Full Text(De Gruyter)
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7 . Academic Journal
Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.
저자
by
Cheema, Huma Arshad
;
Fayyaz, Zafar
;
Saeed, Anjum
;
Anjum, Muhammad Nadeem
;
Ijaz, Sadaqat
, et al.
소스
Turkish Journal of Gastroenterology; Oct2023, Vol. 34 Issue 10, p1088-1098, 14p
Web of Science
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7 . Academic Journal
The mutational landscape of genetic cholestatic diseases in Pakistani children.
저자
by
Cheema, Huma Arshad
;
Waheed, Nadia
;
Saeed, Anjum
;
Anjum, Muhammad Nadeem
;
Fayyaz, Zafar
, et al.
소스
Journal of the Pakistan Medical Association; Aug2023, Vol. 73 Issue 8, p1610-1621, 12p
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7 . Academic Journal
Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries
저자
by
Aftab, Sommayya
;
Khan, Sabeen Abid
;
Malik, Munir Iqbal
;
Imran, Ahmed
;
Anjum, Muhammad Nadeem
, et al.
소스
Journal of Pediatric Endocrinology and Metabolism
. 36(2):152-157
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7 . Academic Journal
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
저자
by
Skrahin, Aliaksandr
;
Cheema, Huma Arshad
;
Hussain, Maqbool
;
Rana, Nuzhat Noureen
;
Rehman, Khalil Ur
, et al.
소스
Life Science Alliance; Mar2023, Vol. 6 Issue 3, p1-9, 9p
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7 . Report
Management challenges of Rabson Mendenhall syndrome in a resource limited country: a case report
저자
by
Aftab, Sommayya
;
Shaheen, Tahir
;
Asif, Rameen
;
Anjum, Muhammad Nadeem
;
Saeed, Anjum
, et al.
소스
Journal of Pediatric Endocrinology and Metabolism
. 35(11):1429-1432
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7 . Academic Journal
Etiological and Clinical Spectrum of Acute Liver Failure of Infancy in Pakistan.
저자
by
Sarwar, Hussan Ali
;
Cheema, Huma Arshad
;
Anwar, Aftab
;
Batool, Sara
;
Saeed, Anjum
, et al.
소스
Pakistan Armed Forces Medical Journal
. Dec2022, Vol. 72 Issue 6, p2210-2213. 4p.
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7 . Academic Journal
Lipoid Proteinosis Due to Homozygous Nonsense Mutation in Extracellular Matrix Protein 1 (ECM1) Gene in Three Pakistani Siblings
저자
by
Tariq, Hira
;
Jawad, Shahbano
;
Aman, Shahbaz
;
Saeed, Anjum
;
Cheema, Huma Arshad
.
소스
International Journal of Dermatology and Venereology
. Oct 11, 2022
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