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Akgun-Dogan, Ozlem
155  results:
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1

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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2

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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3

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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4

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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5

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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6

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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7

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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8

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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9

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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10

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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11

Implication of transcription factor FOXD2 dysfunction in sy..:

Riedhammer, Korbinian M. ; Nguyen, Thanh-Minh T. ; Koşukcu, Can...
Kidney International.  105 (2024)  4 - p. 844-864 , 2024
Link: https://doi.org/10.1016/..
 
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12

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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13

Obstacles and expectations of rare disease patients and the..:

Hatirnaz Ng, Ozden ; Sahin, Ilayda ; Erbilgin, Yucel...
Frontiers in Public Health.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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14

Clinical Heterogeneity and Different Phenotypes in Patients..:

Parra, Alejandro ; Rabin, Rachel ; Pappas, John...
info:eu-repo/semantics/altIdentifier/doi/10.3390/genes14061179.  , 2023
Link: https://hdl.handle.net/2..
 
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15

Clinical Heterogeneity and Different Phenotypes in Patients..:

Parra, Alejandro ; Rabin, Rachel ; Pappas, John...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297832/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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