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Aykut, Ayça
149  results:
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1

Primary immune regulatory disorders (PIRD): expanding the m..:

Aykut, Ayca ; Durmaz, Asude ; Karaca, Neslihan...
Immunologic Research.  , 2024
Link: https://doi.org/10.1007/..
 
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2

P-15 A rare case of Trichorhinophalangeal Syndrome Type I:

Akçura, Can ; Alkan, Samet ; Güney, Sedat Can...
JCEM Case Reports.  2 (2024)  Supplement_1 - p. , 2024
Link: https://doi.org/10.1210/..
 
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3

An investigation of the etiology and follow‐up findings in ..:

Yüksel Ülker, Aylin ; Uludağ Alkaya, Dilek ; Çağlayan, Ahmet Okay...
American Journal of Medical Genetics Part A.  191 (2023)  6 - p. 1530-1545 , 2023
Link: https://doi.org/10.1002/..
 
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4

An Extraordinary Case of Autoimmune Polyendocrinopathy-Cand..:

Aytac, Gulcin ; Guven, Burcu ; Aydin, Ilyas...
Case Reports in Immunology.  2023 (2023)  - p. 1-6 , 2023
Link: https://doi.org/10.1155/..
 
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5

Biallelic variants in ADAMTS15 cause a novel form of distal..:

Boschann, Felix ; Cogulu, Ozgur ; Pehlivan, Davut...
Genetics in Medicine.  25 (2023)  5 - p. 100799 , 2023
Link: https://doi.org/10.1016/..
 
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6

Current genetic defects in common variable immunodeficiency..:

Aygun, Ayse ; Topyıldız, Ezgi ; Geyik, Mehmet...
Immunologic Research.  72 (2023)  2 - p. 225-233 , 2023
Link: https://doi.org/10.1007/..
 
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7

LSM1 is the new candidate gene for neurodevelopmental disor..:

Kok Kilic, Gizem ; Isik, Esra ; Alpay, Omer...
European Journal of Medical Genetics.  65 (2022)  11 - p. 104610 , 2022
Link: https://doi.org/10.1016/..
 
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8

A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Pre..:

Topyildiz, Ezgi ; Edeer Karaca, Neslihan ; Aygun, Ayse...
Case Reports in Immunology.  2022 (2022)  - p. 1-6 , 2022
Link: https://doi.org/10.1155/..
 
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9

Biallelic variants in ADAMTS15 cause a novel form of distal..:

Boschann, Felix ; Cogulu, Ozgur ; Pehlivan, Davut...
Genetics in Medicine.  24 (2022)  10 - p. 2187-2193 , 2022
Link: https://doi.org/10.1016/..
 
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10

Severe combined immunodeficiencies: Expanding the mutation ..:

Aykut, Ayca ; Durmaz, Asude ; Karaca, Neslihan...
Scandinavian Journal of Immunology.  95 (2022)  6 - p. , 2022
Link: https://doi.org/10.1111/..
 
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11

Human immune disorder associated with homozygous hypomorphi..:

Kutukculer, Necil ; Seeholzer, Thomas ; O'Neill, Thomas J....
Journal of Allergy and Clinical Immunology.  147 (2021)  2 - p. 775-778.e8 , 2021
Link: https://doi.org/10.1016/..
 
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12

20-year experience on prenatal diagnosis in a reference uni..:

DURMAZ, Burak ; BOLAT, Hilmi ; CENGİSİZ, Zehra...
TURKISH JOURNAL OF MEDICAL SCIENCES.  51 (2021)  4 - p. 1775-1780 , 2021
Link: https://doi.org/10.3906/..
 
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13

Specific early signs and long-term follow-up findings of pr..:

Uludağ Alkaya, Dilek ; Kasapçopur, Özgür ; Bursalı, Ayşegül...
Rheumatology.  61 (2021)  9 - p. 3693-3703 , 2021
Link: https://doi.org/10.1093/..
 
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14

Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (..:

Kutukculer, Necil ; Topyildiz, Ezgi ; Berdeli, Afig...
Clinical Case Reports.  9 (2021)  4 - p. 2023-2031 , 2021
Link: https://doi.org/10.1002/..
 
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15

Clinical and molecular aspects of PTEN mutations in 10 pedi..:

Isik, Esra ; Simsir, Ozguc Semih ; Solmaz, Asli Ece...
Annals of Human Genetics.  84 (2020)  4 - p. 324-330 , 2020
Link: https://doi.org/10.1111/..
 
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