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/vufind/Search/Results?lookfor=%22Demir%2C+Selma%22&type=Person&sort=year
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PubPharm (56)
1
The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method
enthalten in:
Global medical genetics
| 2023
von
Yalcintepe, S.
|
Karal, Y.
|
Demir, S.
| +7
Wird geladen...
2
Homozygous Val6Gly Variation in PRDM5 Gene Causing Brittle Cornea Syndrome : A New Turkish Case
enthalten in:
Molecular syndromology
| 2023
von
Sanrı, A.
|
Demir, S.
|
Gurkan, H.
Wird geladen...
3
Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique
enthalten in:
Balkan medical journal
| 2023
von
Atlı, E.
|
Gürkan, H.
|
Güldiken, B.
| +4
Wird geladen...
4
Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method
enthalten in:
Global medical genetics
| 2022
von
Eker, D.
|
Gurkan, H.
|
Karal, Y.
| +4
Wird geladen...
5
Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype
enthalten in:
Global medical genetics
| 2022
von
Zhuri, D.
|
Gurkan, H.
|
Eker, D.
| +5
Wird geladen...
6
Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy
enthalten in:
Internal medicine journal
| 2022
von
Atli, E.
|
Atli, E.
|
Yalcintepe, S.
| +4
Wird geladen...
7
Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies
enthalten in:
Taiwanese journal of obstetrics & gynecology
| 2022
von
Atli, E.
|
Atli, E.
|
Inan, C.
| +6
Wird geladen...
8
Clinical Implications of Chromosome 16 Copy Number Variation
enthalten in:
Molecular syndromology
| 2022
von
Atli, E.
|
Yalcintepe, S.
|
Atli, E.
| +3
Wird geladen...
9
First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)
enthalten in:
Molecular syndromology
| 2022
von
Yalcintepe, S.
|
Zhuri, D.
|
Sezginer Guler, H.
| +5
Wird geladen...
10
Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period
enthalten in:
Global medical genetics
| 2022
von
Atli, E.
|
Atli, E.
|
Yalcintepe, S.
| +5
Wird geladen...
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Zeitschriftentitel
6
Global medical genetics
6
Molecular syndromology
4
Chest
4
Indian journal of pediatrics
3
Balkan medical journal
3
Critical care medicine
2
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2
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Journal of B.U.ON. : official journal of the Ba...
2
Journal of cardiothoracic and vascular anesthesia
2
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Transfusion
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Human molecular genetics
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1
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Pediatric endocrinology, diabetes, and metabolism
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Thema
33
Journal Article
8
Case Reports
4
Research Support, Non-U.S. Gov't
3
NGS
3
next-generation sequencing
2
Array CGH
2
DNA-Binding Proteins
2
Intracellular Signaling Peptides and Proteins
2
KRAS
2
Research Support, N.I.H., Extramural
2
SMN1
2
SMN2
2
genetic testing
2
spinal muscular atrophy
1
11128-99-7
1
130068-27-8
1
22q deletions
1
22q duplications
1
34SSX5LDE5
1
451W47IQ8X
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Erscheinungszeitraum
36
2020-
15
2010-2019
5
2000-2009
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52
Englisch
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