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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
Novel EDAR mutation in tooth agenesis and variable associated features
저자
by
Mumtaz, Sara
;
Nalbant, Gökhan
;
Yıldız Bölükbaşı, Esra
;
Huma, Zele
;
Ahmad, Nafees
, et al.
소스
In
European Journal of Medical Genetics
September 2020 63(9)
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7 . Academic Journal
Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation
저자
by
Mumtaz, Sara
;
Yıldız, Esra
;
Lal, Karmoon
;
Tolun, Aslıhan
;
Malik, Sajid
.
소스
In
European Journal of Medical Genetics
May 2017 60(5):268-274
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7 . Academic Journal
DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability
저자
by
Köroğlu, Çiğdem
;
Baysal, Leyla
;
Cetinkaya, Murat
;
Karasoy, Hatice
;
Tolun, Aslıhan
.
소스
In
Parkinsonism and Related Disorders
March 2013 19(3):320-324
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7 . Academic Journal
A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood
저자
by
Lohmann, Ebba
;
Köroğlu, Çiğdem
;
Hanagasi, Hasmet A.
;
Dursun, Burcu
;
Taşan, Erşan
, et al.
소스
In
Parkinsonism and Related Disorders
February 2012 18(2):191-193
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7 . Academic Journal
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
저자
by
Misceo, Doriana
;
Lirussi, Lisa
;
Strømme, Petter
;
Sumathipala, Dulika
;
Guerin, Andrea
, et al.
소스
Brain: A Journal of Neurology
. Aug2023, Vol. 146 Issue 8, p3513-3527. 15p.
Full Text (OUP)
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7 . Academic Journal
KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
저자
by
Koprulu, Mine
;
Naeem, Muhammad
;
Nalbant, Gökhan
;
Shabbir, Rana M. Kamran
;
Mahmood, Tariq
, et al.
소스
European Journal of Human Genetics
. 30(11):1292-1296
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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.
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7 . Academic Journal
A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.
저자
by
Malik, Sajid
;
Nalbant, Gökhan
;
Noreen, Moqadsa
;
Afzal, Muhammad
;
Tolun, Aslıhan
.
소스
American Journal of Medical Genetics. Part A; Jan2022, Vol. 188 Issue 1, p343-349, 7p
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7 .
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy
저자
by
Yüceyar, Nur
;
Ayhan, Özgecan
;
Karasoy, Hatice
;
Tolun, Aslıhan
.
소스
In
Neuromuscular Disorders
April 2015 25(4):340-344
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