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Simsek‐Kiper, Pelin Özlem
86  results:
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1

Further defining the molecular spectrum and long‐term follo..:

Akalın, Akçahan ; Ayaz, Ercan ; Soğukpınar, Merve...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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2

A novel GRK2 variant in a patient with Jeune asphyxiating t..:

Şimşek‐Kiper, Pelin Özlem ; Karaosmanoğlu, Beren ; Taşkıran, Ekim Zihni...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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3

Cockayne syndrome type 3 with dystonia‐ataxia and clicking ..:

Gültekin‐Zaim, Özge Berna ; Yalçın‐Çakmaklı, Gül ; Çolpak, Ayşe İlksen...
Movement Disorders Clinical Practice.  10 (2023)  S3 - p. , 2023
Link: https://doi.org/10.1002/..
 
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4

A novel biallelic CRIPT variant in a patient with short sta..:

Akalın, Akçahan ; Şimşek‐Kiper, Pelin Özlem ; Taşkıran, Ekim Z....
American Journal of Medical Genetics Part A.  191 (2023)  4 - p. 1119-1127 , 2023
Link: https://doi.org/10.1002/..
 
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5

Diagnostic distribution and postnatal evaluation of prenata..:

Kahraman, Ayca Burcu ; Simsek‐Kiper, Pelin Ozlem ; Utine, Gulen Eda.
American Journal of Medical Genetics Part A.  188 (2022)  8 - p. 2367-2375 , 2022
Link: https://doi.org/10.1002/..
 
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6

Spondyloepimetaphyseal dysplasiaEXTL3‐deficienttype: Long‐t..:

Akalın, Akçahan ; Taskiran, Ekim Z. ; Şimşek‐Kiper, Pelin Özlem...
American Journal of Medical Genetics Part A.  185 (2021)  10 - p. 3104-3110 , 2021
Link: https://doi.org/10.1002/..
 
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7

Further expanding the mutational spectrum of brain abnormal..:

Kındış, Erdem ; Simsek‐Kiper, Pelin Özlem ; Koşukcu, Can...
American Journal of Medical Genetics Part A.  185 (2021)  6 - p. 1888-1896 , 2021
Link: https://doi.org/10.1002/..
 
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8

Further expanding the mutational spectrum and investigation..:

Simsek‐Kiper, Pelin Ozlem ; Taskiran, Ekim ; Kosukcu, Can...
American Journal of Medical Genetics Part A.  179 (2019)  7 - p. 1157-1172 , 2019
Link: https://doi.org/10.1002/..
 
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9

Experience of a skeletal dysplasia registry in Turkey: A fi..:

Kurt‐Sukur, Eda Didem ; Simsek‐Kiper, Pelin Ozlem ; Utine, Gülen Eda..
American Journal of Medical Genetics Part A.  167 (2015)  9 - p. 2065-2074 , 2015
Link: https://doi.org/10.1002/..
 
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10

Positive effects of an angiotensin II type 1 receptor antag..:

Simsek‐Kiper, Pelin Ozlem ; Dikoglu, Esra ; Campos‐Xavier, Belinda...
American Journal of Medical Genetics Part A.  164 (2014)  10 - p. 2667-2671 , 2014
Link: https://doi.org/10.1002/..
 
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11

Barraquer–Simons syndrome: A rare clinical entity:

Simsek‐Kiper, Pelin Ozlem ; Roach, Emir ; Utine, Gulen Eda.
American Journal of Medical Genetics Part A.  164 (2014)  7 - p. 1756-1760 , 2014
Link: https://doi.org/10.1002/..
 
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12

Homozygosity for a novel truncating mutation confirms TBX15..:

Dikoglu, Esra ; Simsek‐Kiper, Pelin Ozlem ; Utine, Gulen Eda...
American Journal of Medical Genetics Part A.  161 (2013)  12 - p. 3161-3165 , 2013
Link: https://doi.org/10.1002/..
 
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13

A newborn with overlapping features of AEC and EEC syndrome:

Celik, Tolga Hasan ; Buyukcam, Ayse ; Simsek‐Kiper, Pelin Ozlem...
American Journal of Medical Genetics Part A.  155 (2011)  12 - p. 3100-3103 , 2011
Link: https://doi.org/10.1002/..
 
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14

A spectrum of TP63-related disorders with eight affected in..:

Soğukpınar, Merve ; Utine, Gülen Eda ; Boduroğlu, Koray.
European Journal of Medical Genetics.  68 (2024)  - p. 104911 , 2024
Link: https://doi.org/10.1016/..
 
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15

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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