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1 . Academic Journal
Genotype-phenotype correlations in ocular manifestations of Marinesco–Sjögren syndrome: Case report and literature review.
저자
by
Bayram, Nurettin
;
Kaçar Bayram, Ayşe
;
Daimagüler, Hülya-Sevcan
;
Dafsari, Hormos Salimi
;
Bamborschke, Daniel
, et al.
소스
European Journal of Ophthalmology; May2022, Vol. 32 Issue 3, pNP92-NP97, 6p
Web of Science
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7 . Academic Journal
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.
저자
by
Kaczmarek, Alexander Tobias
;
Bender, Daniel
;
Gehling, Titus
;
Kohl, Joshua Benedict
;
Daimagüler, Hülya‐Sevcan
, et al.
소스
Journal of Inherited Metabolic Disease; Mar2022, Vol. 45 Issue 2, p169-182, 14p
Web of Science
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7 . Academic Journal
On the differential diagnosis of neuropathy in neurogenetic disorders
저자
by
Cirak, Sebahattin
;
Daimagüler, Hülya-Sevcan
;
Moawia, Abubakar
;
Koy, Anne
;
Yis, Uluc
.
소스
Medizinische Genetik
. 32(3):243-261
Full Text(De Gruyter)
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7 . Academic Journal
Clinical and genetic characterization of PYROXD1‐related myopathy patients from Turkey.
저자
by
Daimagüler, Hülya‐Sevcan
;
Akpulat, Ugur
;
Özdemir, Özkan
;
Yis, Uluc
;
Güngör, Serdal
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2021, Vol. 185 Issue 6, p1678-1690, 13p
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7 . Academic Journal
Making sense of missense variants in TTN-related congenital myopathies.
저자
by
Rees, Martin
;
Nikoopour, Roksana
;
Fukuzawa, Atsushi
;
Kho, Ay Lin
;
Fernandez-Garcia, Miguel A.
, et al.
소스
Acta Neuropathologica
. Mar2021, Vol. 141 Issue 3, p431-453. 23p.
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7 . Academic Journal
Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.
저자
by
Sprute, Rosanne
;
Jergas, Hannah
;
Ölmez, Akgün
;
Alawbathani, Salem
;
Karasoy, Hatice
, et al.
소스
American Journal of Medical Genetics. Part A; Feb2021, Vol. 185 Issue 2, p344-354, 11p
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7 . Academic Journal
Mutation in CEP135 causing primary microcephaly and subcortical heterotopia.
저자
by
Bamborschke, Daniel
;
Daimagüler, Hülya‐Sevcan
;
Hahn, Andreas
;
Hussain, Muhammad S.
;
Nürnberg, Peter
, et al.
소스
American Journal of Medical Genetics. Part A; Oct2020, Vol. 182 Issue 10, p2450-2453, 4p
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7 . Academic Journal
Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy.
저자
by
Dafsari, Hormos Salimi
;
Kocaturk, Nur Mehpare
;
Daimagüler, Hülya-Sevcan
;
Brunn, Anna
;
Dötsch, Jörg
, et al.
소스
Acta Neuropathologica Communications
. 12/18/2019, Vol. 7 Issue 1, p1-5. 5p.
Open Access (BioMed Central)
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7 . Periodical
The genomic and clinical landscape of fetal akinesia
저자
by
Pergande, Matthias
;
Motameny, Susanne
;
Özdemir, Özkan
;
Kreutzer, Mona
;
Wang, Haicui
, et al.
소스
Genetics in Medicine; March 2020, Vol. 22 Issue: 3 p511-523, 13p
Full Text (ScienceDirect)
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7 . Periodical
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia
저자
by
Dafsari, Hormos Salimi
;
Sprute, Rosanne
;
Wunderlich, Gilbert
;
Daimagüler, Hülya-Sevcan
;
Karaca, Ezgi
, et al.
소스
Journal of Human Genetics; October 2019, Vol. 64 Issue: 10 p1051-1054, 4p
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