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Gulec Yilmaz, Elif
182  results:
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1

Spectrum of Genetic Variants in a Cohort of 37 Laterality D..:

Antony, Dinu ; Gulec Yilmaz, Elif ; Gezdirici, Alper...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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2

Developmental genomics of limb malformations: Allelic serie..:

Duan, Ruizhi ; Hijazi, Hadia ; Gulec, Elif Yilmaz...
Human Genetics and Genomics Advances.  3 (2022)  4 - p. 100132 , 2022
Link: https://doi.org/10.1016/..
 
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3

Clinical and molecular genetic findings of Crisponi/cold‐in..:

Yilmaz Gulec, Elif ; Turgut, Gozde Tutku ; Gezdirici, Alper...
Clinical Genetics.  102 (2022)  3 - p. 201-217 , 2022
Link: https://doi.org/10.1111/..
 
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4

Effect of different storage conditions on COVID‐19 RT‐PCR r..:

Yilmaz Gulec, Elif ; Cesur, Nevra P. ; Yesilyurt Fazlioğlu, Gonca.
Journal of Medical Virology.  93 (2021)  12 - p. 6575-6581 , 2021
Link: https://doi.org/10.1002/..
 
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5

The evaluation of potential global impact of the N501Y muta..:

Komurcu, Selen Zeliha Mart ; Artik, Yakup ; Cesur, Nevra Pelin...
Journal of Medical Virology.  94 (2021)  3 - p. 1009-1019 , 2021
Link: https://doi.org/10.1002/..
 
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6

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Co..:

Verlee, Maxim ; Beyens, Aude ; Gezdirici, Alper...
Genes.  12 (2021)  4 - p. 510 , 2021
Link: https://doi.org/10.3390/..
 
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7

Two novel bi‐allelic KDELR2 missense variants cause osteoge..:

Efthymiou, Stephanie ; Herman, Isabella ; Rahman, Fatima...
American Journal of Medical Genetics Part A.  185 (2021)  7 - p. 2241-2249 , 2021
Link: https://doi.org/10.1002/..
 
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8

High prevalence of multilocus pathogenic variation in neuro..:

Mitani, Tadahiro ; Isikay, Sedat ; Gezdirici, Alper...
The American Journal of Human Genetics.  108 (2021)  10 - p. 1981-2005 , 2021
Link: https://doi.org/10.1016/..
 
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9

An integrated clinical and molecular study of a cohort of T..:

Gezdirici, Alper ; Teralı, Kerem ; Gülec, Elif Yılmaz...
Journal of Human Genetics.  66 (2021)  7 - p. 647-657 , 2021
Link: https://doi.org/10.1038/..
 
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10

The clinical significance of A2ML1 variants in Noonan syndr..:

Brinkmann, Julia ; Lissewski, Christina ; Pinna, Valentina...
European Journal of Human Genetics.  29 (2020)  3 - p. 524-527 , 2020
Link: https://doi.org/10.1038/..
 
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11

Exome Sequencing of a Primary Ovarian Insufficiency Cohort ..:

Jolly, Angad ; Bayram, Yavuz ; Turan, Serap...
The Journal of Clinical Endocrinology & Metabolism.  104 (2019)  8 - p. 3049-3067 , 2019
Link: https://doi.org/10.1210/..
 
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12

ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on ..:

Beyens, Aude ; Moreno‐Artero, Ester ; Bodemer, Christine...
Experimental Dermatology.  28 (2018)  10 - p. 1142-1145 , 2018
Link: https://doi.org/10.1111/..
 
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13

WNT Signaling Perturbations Underlie the Genetic Heterogene..:

White, Janson J. ; Mazzeu, Juliana F. ; Coban-Akdemir, Zeynep...
The American Journal of Human Genetics.  102 (2018)  1 - p. 27-43 , 2018
Link: https://doi.org/10.1016/..
 
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14

Homozygous loss-of-function mutations in MNS1 cause lateral..:

Ta-Shma, Asaf ; Hjeij, Rim ; Perles, Zeev...
PLOS Genetics.  14 (2018)  8 - p. e1007602 , 2018
Link: https://doi.org/10.1371/..
 
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15

Foramina parietalia permagna: familial and radiological eva..:

Gabor, Larissa ; Canaz, Huseyin ; Canaz, Gokhan...
Child's Nervous System.  33 (2016)  5 - p. 853-857 , 2016
Link: https://doi.org/10.1007/..
 
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