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Ürel-Demir, Gizem
24  results:
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1

Three new cases of Crisponi /cold induced sweating syndrome..:

Kolkiran, Abdulkerim ; Ürel-Demir, Gizem ; Şimşek-Kiper, Pelin Özlem.
European Journal of Medical Genetics.  64 (2021)  7 - p. 104229 , 2021
Link: https://doi.org/10.1016/..
 
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2

Natural history of TRPV4-Related disorders: From skeletal d..:

Ürel-Demir, Gizem ; Şimşek-Kiper, Pelin Özlem ; Öncel, İbrahim...
European Journal of Paediatric Neurology.  32 (2021)  - p. 46-55 , 2021
Link: https://doi.org/10.1016/..
 
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3

Further defining the clinical and molecular spectrum of acr..:

Simsek-Kiper, Pelin Ozlem ; Urel-Demir, Gizem ; Taskiran, Ekim Z....
Journal of Human Genetics.  66 (2020)  6 - p. 585-596 , 2020
Link: https://doi.org/10.1038/..
 
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4

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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5

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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6

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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7

Early diagnostic clues of mucolipidosis type II: Significan..:

Burgac, Ezgi ; Kaplan, İrem ; Köseci, Burcu...
American Journal of Medical Genetics Part A.  194 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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8

Clinical Evaluation of Pediatric Patients with Hereditary A..:

Kırmızıtaş Aydoğdu, Ayşe ; Ürel Demir, Gizem
The Tohoku Journal of Experimental Medicine.  262 (2024)  1 - p. 23-27 , 2024
Link: https://doi.org/10.1620/..
 
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9

Genetic disorders with symptoms mimicking rheumatologic dis..:

Kaya Akca, Ummusen ; Simsek Kiper, Pelin Ozlem ; Urel Demir, Gizem...
European Journal of Medical Genetics.  64 (2021)  4 - p. 104185 , 2021
Link: https://doi.org/10.1016/..
 
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10

Investigation of Genetic Causes in a Developmental Disorder..:

Güleray, Naz ; Koşukcu, Can ; Oğuz, Sümeyra...
The Cleft Palate-Craniofacial Journal.  59 (2021)  9 - p. 1114-1124 , 2021
Link: https://doi.org/10.1177/..
 
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11

Two Siblings with Kaufman Oculocerebrofacial Syndrome Resem..:

Ürel-Demir, Gizem ; Aydın, Büşra ; Karaosmanoğlu, Beren...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8114063/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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12

Further Phenotypic Delineation of Partial Trisomy 17q and P..:

Ürel-Demir, Gizem ; Akgün-Doğan, Özlem ; Oğuz, Sümeyra...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109379/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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13

Further Phenotypic Delineation of Partial Trisomy 17q and P..:

ALİKAŞİFOĞLU, MEHMET ; Şimşek-Kiper, Pelin Özlem ; Ürel-Demir, Gizem...
f55e4a4a-86d9-4aa0-b3b6-5c8c1e4e1d1f.  , 2020
Link: https://doi.org/10.1159/..
 
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14

Correction to: Review of patients with achondroplasia: a si..:

Soğukpınar, Merve ; Demir, Gizem Ürel ; Utine, Gülen Eda...
European Journal of Pediatrics.  , 2024
Link: https://doi.org/10.1007/..
 
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15

Review of patients with achondroplasia: a single-center's e..:

Soğukpınar, Merve ; Demir, Gizem Ürel ; Utine, Gülen Eda...
European Journal of Pediatrics.  , 2024
Link: https://doi.org/10.1007/..
 
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