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PubPharm (43)
1
Comparison of the optical coherence tomography-angiography (OCT-A) vascular measurements between molecularly confirmed MODY and age-matched healthy controls
enthalten in:
Acta diabetologica
| 2024
von
Çavdarlı, C.
|
Büyükyılmaz, G.
|
Çavdarlı, B.
| +3
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2
Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene : case report and review of literature
enthalten in:
Journal of pediatric endocrinology & metabolism : JPEM
| 2024
von
Sürücü Kara, .
|
Köse, E.
|
Çavdarlı, B.
| +1
Wird geladen...
3
Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature
enthalten in:
The journal of pediatric endocrinology and metabolism
| 2024
von
Sürücü Kara, .
|
Köse, E.
|
Çavdarlı, B.
| +1
Wird geladen...
4
Laboratory and Genotype Relationship of Patients with SDHA-Related Mitochondrial Disease
enthalten in:
Molecular syndromology
| 2023
von
Civelek Ürey, B.
|
Ceylan, A.
|
Çavdarlı, B.
| +4
Wird geladen...
5
Neuromuscular disease genetics in under-represented populations : increasing data diversity
enthalten in:
Brain : a journal of neurology
| 2023
von
Wilson, L.
|
Macken, W.
|
Perry, L.
| +79
Wird geladen...
6
Impact of Inflammation-Related Genes on COVID-19 : Prospective Study at Turkish Cohort
enthalten in:
The Tohoku journal of experimental medicine
| 2023
von
Ceylan, A.
|
Çavdarlı, B.
|
Ceylan, G.
| +14
Wird geladen...
7
High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy
enthalten in:
Annals of human genetics
| 2023
von
Çavdarlı, B.
|
Köken, .
|
Satılmış, S.
| +5
Wird geladen...
8
Two Patients Diagnosed as Succinate Dehydrogenase Deficiency : Case Report
enthalten in:
Molecular syndromology
| 2023
von
Ürey, B.
|
Ceylan, A.
|
Çavdarlı, B.
| +4
Wird geladen...
9
High diagnostic yield with algorithmic molecular approach on hereditary neuropathies
enthalten in:
Revista da Associacao Medica Brasileira (1992)
| 2023
von
Ceylan, G.
|
Habiloğlu, E.
|
Çavdarlı, B.
| +4
Wird geladen...
10
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy
enthalten in:
Annals of Human Genetics
| 2023
von
Çavdarlı, B.
|
Köken, .
|
Satılmış, S.
| +5
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0J9L7J6V8C
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ACE protein, human
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Erscheinungszeitraum
32
2020-
11
2010-2019
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