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Akgun‐Dogan, Ozlem
25  results:
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1

DNAJC21‐related thrombocytopenia in a young adult female:

Aslan, Deniz ; Akgun‐Dogan, Ozlem ; Ay, Beril...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  193 (2023)  2 - p. 193-197 , 2023
Link: https://doi.org/10.1002/..
 
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2

Mutational spectrum of congenital long QT syndrome in Turke..:

Akgun‐Dogan, Ozlem ; Ağaoğlu, Nihat B. ; K. Demirkol, Yasemin...
Journal of Cardiovascular Electrophysiology.  33 (2021)  2 - p. 262-273 , 2021
Link: https://doi.org/10.1111/..
 
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3

ADA2 deficiency in a patient with Noonan syndrome‐like diso..:

Akgun‐Dogan, Ozlem ; Simsek‐Kiper, Pelin O. ; Taskiran, Ekim...
American Journal of Medical Genetics Part A.  179 (2019)  12 - p. 2474-2480 , 2019
Link: https://doi.org/10.1002/..
 
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4

Further delineation of spondyloepimetaphyseal dysplasia Fad..:

Simsek‐Kiper, Pelin O. ; Taskiran, Ekim Z. ; Kosukcu, Can...
American Journal of Medical Genetics Part A.  176 (2018)  9 - p. 2009-2016 , 2018
Link: https://doi.org/10.1002/..
 
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5

Impact of deep phenotyping: high diagnostic yield in a dive..:

Akgun-Dogan, Ozlem ; Tuc Bengur, Ecenur ; Ay, Beril...
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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6

Rapid genome sequencing for critically ill infants: an inau..:

Guner Yilmaz, Bengisu ; Akgun-Dogan, Ozlem ; Ozdemir, Ozkan...
Frontiers in Pediatrics.  12 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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7

Magnetic resonance imaging based kidney volume assessment f..:

Yilmaz, Kubra ; Saygili, Seha ; Canpolat, Nur...
Frontiers in Pediatrics.  12 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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8

Clinical Heterogeneity and Different Phenotypes in Patients..:

Parra, Alejandro ; Rabin, Rachel ; Pappas, John...
Genes.  14 (2023)  6 - p. 1179 , 2023
Link: https://doi.org/10.3390/..
 
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9

Two new patients with acromesomelic dysplasia, PRKG2 type—i..:

Akgun-Dogan, Ozlem ; Díaz-González, Francisca ; de Lima Jorge, Alexander Augusto...
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
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10

Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 ..:

Akgün-Doğan, Özlem ; Simsek-Kiper, Pelin Ozlem ; Taşkıran, Ekim...
Journal of Child Neurology.  36 (2021)  10 - p. 816-822 , 2021
Link: https://doi.org/10.1177/..
 
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11

A novel NKX3-2 mutation associated with perinatal lethal ph..:

Simsek-Kiper, Pelin Ozlem ; Kosukcu, Can ; Akgun-Dogan, Ozlem...
European Journal of Medical Genetics.  62 (2019)  1 - p. 21-26 , 2019
Link: https://doi.org/10.1016/..
 
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12

Ophthalmo-acromelic syndrome in an infant:

Ürel-Demir, Gizem ; Taşkıran, Ekim Zihni ; Akgün-Doğan, Özlem..
European Journal of Medical Genetics.  62 (2019)  7 - p. 103664 , 2019
Link: https://doi.org/10.1016/..
 
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13

Fragile x-associated premature ovarian failure in a large T..:

Utine, Gülen Eda ; Şimşek-Kiper, Pelin Özlem ; Akgün-Doğan, Özlem...
European Journal of Obstetrics & Gynecology and Reproductive Biology.  221 (2018)  - p. 76-80 , 2018
Link: https://doi.org/10.1016/..
 
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14

Further expansion of the mutational spectrum of spondylo-me..:

Ürel-Demir, Gizem ; Simsek-Kiper, Pelin Ozlem ; Akgün-Doğan, Özlem...
Journal of Human Genetics.  63 (2018)  9 - p. 1003-1007 , 2018
Link: https://doi.org/10.1038/..
 
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15

Table1_Magnetic resonance imaging based kidney volume asses..:

Kubra Yilmaz ; Seha Saygili ; Nur Canpolat...
doi:10.3389/fped.2024.1357365.s001.  , 2024
Link: https://doi.org/10.3389/..
 
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