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1 . Academic Journal
CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies
저자
by
Koprulu, Mine
;
Shabbir, Rana Muhammad Kamran
;
Zaman, Qamar
;
Nalbant, Gökhan
;
Malik, Sajid
, et al.
소스
In
European Journal of Medical Genetics
April 2021 64(4)
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7 . Academic Journal
Community-Based Assessment of Knowledge, Attitude, Practices and Risk Factors Regarding COVID-19 Among Pakistanis Residents During a Recent Outbreak: A Cross-Sectional Survey.
저자
by
Afzal, Muhammad Sohail
;
Khan, Aisha
;
Qureshi, Ubaid Ur Rahman
;
Saleem, Sadia
;
Saqib, Muhammad Arif Nadeem
, et al.
소스
Journal of Community Health
; Jun2021, Vol. 46 Issue 3, p476-486, 11p, 7 Charts
EBSCOHost PDF
Web of Science
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7 . Academic Journal
Assessment of risk factors associated with outbreak of hepatitis A in Shakrial, Rawalpindi, Pakistan.
저자
by
Badar, Aamir
;
Malik, Muhammad Wasif
;
Hasnain, Syed Zain
;
Shah, Syed Ijaz Ali
;
Shabbir, Rana Muhammad Kamran
, et al.
소스
Journal of Infection in Developing Countries
. Jan2023, Vol. 17 Issue 1, p111-117. 7p.
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7 . Academic Journal
A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family.
저자
by
Naqvi, Syeda Farwa
;
Shabbir, Rana Muhammad Kamran
;
Tolun, Aslıhan
;
Basit, Sulman
;
Malik, Sajid
.
소스
Genetic Testing & Molecular Biomarkers
. Jan2022, Vol. 26 Issue 1, p37-42. 6p.
Web of Science
Scopus
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7 . Periodical
Homozygous deletion of MYADML2in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles
저자
by
Yildiz Bölükbasi, Esra
;
Shabbir, Rana Muhammad Kamran
;
Malik, Sajid
;
Tolun, Aslihan
.
소스
Journal of Human Genetics; February 2021, Vol. 66 Issue: 2 p171-179, 9p
Web of Science
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6 . Academic Journal
A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds.
저자
by
Khan, Rizwan
;
Shabbir, Rana Muhammad Kamran
;
Raza, Irum
;
Abdullah, Umair
;
Naeem, Muhammad Asif
, et al.
소스
Ophthalmic Genetics
. Feb2020, Vol. 41 Issue 1, p7-12. 6p.
Web of Science
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7 .
Prevalence of different tick species on livestock and associated equines and canine from different agro-ecological zones of Pakistan
저자
by
Hussain, Nazeer
;
Shabbir, Rana Muhammad Kamran
;
Ahmed, Haroon
;
Afzal, Muhammad Sohail
;
Ullah, Shafi
, et al.
소스
Frontiers in Veterinary Science
. 9
Open Access (OpenAIRE)
Scopus
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7 . Academic Journal
Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles
저자
by
Yıldız Bölükbaşı, Esra
;
Shabbir, Rana Muhammad Kamran
;
Malik, Sajid
;
Tolun, Aslıhan
.
소스
Journal of Human Genetics
. 66(2):171-179
Web of Science
Scopus
JCR 저널정보
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6 . Periodical
Homozygous CHST11mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly
저자
by
Shabbir, Rana Muhammad Kamran
;
Nalbant, Gokhan
;
Ahmad, Nafees
;
Malik, Sajid
;
Tolun, Aslıhan
.
소스
Journal of Medical Genetics (JMG); 2018, Vol. 55 Issue: 7 p489-496, 8p
Full Text (BMJ Journals)
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7 . Academic Journal
Homozygous deletion ofMYADML2in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles
저자
by
Yildiz Bolukbasi, Esra
;
Shabbir, Rana Muhammad Kamran
;
Malik, Sajid
;
Tolun, Aslihan
.
소스
JOURNAL OF HUMAN GENETICS
; AUG 10 2020, 9p.
Scopus
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