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Tuysuz, Beyhan
228  results:
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1

Further characterization of ARSK‐related mucopolysaccharido..:

Uludağ Alkaya, Dilek ; Taner, Hasan Emir ; Yıldırım, Timur..
American Journal of Medical Genetics Part A.  194 (2024)  8 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

Gollop–Wolfgang Complex Is Associated with a Monoallelic Va..:

Odrzywolski, Adrian ; Tüysüz, Beyhan ; Debeer, Philippe...
Genes.  15 (2024)  1 - p. 129 , 2024
Link: https://doi.org/10.3390/..
 
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3

The clinical phenotype of Koolen‐de Vries syndrome in Turki..:

Karamik, Gokcen ; Tuysuz, Beyhan ; Isik, Esra...
American Journal of Medical Genetics Part A.  191 (2023)  7 - p. 1814-1825 , 2023
Link: https://doi.org/10.1002/..
 
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4

Investigation of (Epi)genetic causes in syndromic short chi..:

Tüysüz, Beyhan ; Kasap, Büşra ; Uludağ Alkaya, Dilek...
European Journal of Medical Genetics.  66 (2023)  11 - p. 104854 , 2023
Link: https://doi.org/10.1016/..
 
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5

Early Diagnostic Signs and the Natural History of Typical F..:

Güneş, Nilay ; Alkaya, Dilek Uludağ ; Demirbilek, Veysi..
The Journal of Pediatrics.  252 (2023)  - p. 93-100 , 2023
Link: https://doi.org/10.1016/..
 
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6

Clinical features of generalized lipodystrophy in Turkey: A..:

Yildirim Simsir, Ilgin ; Tuysuz, Beyhan ; Ozbek, Mehmet Nuri...
Diabetes, Obesity and Metabolism.  25 (2023)  7 - p. 1950-1963 , 2023
Link: https://doi.org/10.1111/..
 
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7

Natural history and genetic spectrum of the Turkish metaphy..:

Tüysüz, Beyhan ; Kasap, Büşra ; Sarıtaş, Merve...
Bone.  167 (2023)  - p. 116614 , 2023
Link: https://doi.org/10.1016/..
 
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8

IFT74 variants cause skeletal ciliopathy and motile cilia d..:

Bakey, Zeineb ; Cabrera, Oscar A. ; Hoefele, Julia...
PLOS Genetics.  19 (2023)  6 - p. e1010796 , 2023
Link: https://doi.org/10.1371/..
 
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9

The molecular spectrum of Turkish osteopetrosis and related..:

Tüysüz, Beyhan ; Usluer, Esra ; Uludağ Alkaya, Dilek...
Bone.  177 (2023)  - p. 116897 , 2023
Link: https://doi.org/10.1016/..
 
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10

Investigation of 11p15.5 Methylation Defects Associated wit..:

Tüysüz, Beyhan ; Bozlak, Serdar ; Uludağ Alkaya, Dilek...
Cancers.  15 (2023)  6 - p. 1872 , 2023
Link: https://doi.org/10.3390/..
 
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11

An investigation of the etiology and follow‐up findings in ..:

Yüksel Ülker, Aylin ; Uludağ Alkaya, Dilek ; Çağlayan, Ahmet Okay...
American Journal of Medical Genetics Part A.  191 (2023)  6 - p. 1530-1545 , 2023
Link: https://doi.org/10.1002/..
 
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12

Biallelic BICD2 variant is a novel candidate for Cohen-like..:

Caglayan, Ahmet Okay ; Tuysuz, Beyhan ; Gül, Ece...
Journal of Human Genetics.  67 (2022)  9 - p. 553-556 , 2022
Link: https://doi.org/10.1038/..
 
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13

A splice site mutation in the TSEN2 causes a new syndrome w..:

Canpolat, Nur ; Liu, Dingxiao ; Atayar, Emine...
Clinical Genetics.  101 (2022)  3 - p. 346-358 , 2022
Link: https://doi.org/10.1111/..
 
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14

Gillessen‐Kaesbach‐Nishimura syndrome in two fetuses from T..:

Kaymak, Didem ; Alpay, Verda ; Davutoğlu, Ebru Alıcı...
American Journal of Medical Genetics Part A.  191 (2022)  2 - p. 617-623 , 2022
Link: https://doi.org/10.1002/..
 
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15

Osteogenesis imperfecta in 140 Turkish families: Molecular ..:

Tüysüz, Beyhan ; Elkanova, Leyla ; Uludağ Alkaya, Dilek...
Bone.  155 (2022)  - p. 116293 , 2022
Link: https://doi.org/10.1016/..
 
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