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Gunay-Aygun, Meral
143  Ergebnisse:
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1

P334: Ciliary analysis defines pathogenicity of novel WDR19..:

Albokhari, Daniah ; Gunay-Aygun, Meral ; Hoover-Fong, Julie.
Genetics in Medicine Open.  2 (2024)  - p. 101228 , 2024
Link: https://doi.org/10.1016/..
 
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2

cDNA sequencing increases the molecular diagnostic yield in..:

Kuptanon, Chulaluk ; Morimoto, Marie ; Nicoli, Elena-Raluca...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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3

An Atypical Presentation of Pyridoxine-Dependent Epilepsy D..:

Kim, Jiyoung ; Pipitone Dempsey, Angela ; Kim, Sun Young...
Case Reports in Genetics.  2022 (2022)  - p. 1-4 , 2022
Link: https://doi.org/10.1155/..
 
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4

Haploinsufficiency of PRR12 causes a spectrum of neurodevel..:

Chowdhury, Fuad ; Wang, Lei ; Al-Raqad, Mohammed...
Genetics in Medicine.  23 (2021)  7 - p. 1234-1245 , 2021
Link: https://doi.org/10.1038/..
 
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5

Mouse genetics reveals Barttin as a genetic modifier of Jou..:

Ramsbottom, Simon A. ; Thelwall, Peter E. ; Wood, Katrina M....
Proceedings of the National Academy of Sciences of the United States of America.  117 (2020)  2 - p. 1113-1118 , 2020
Link: https://www.jstor.org/st..
 
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6

Consensus clinical management guidelines for Alström syndro..:

Tahani, Natascia ; Maffei, Pietro ; Dollfus, Hélène...
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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7

Prospective evaluation of kidney and liver disease in autos..:

Abdul Majeed, Nehna ; Font-Montgomery, Esperanza ; Lukose, Linda...
Molecular Genetics and Metabolism.  131 (2020)  1-2 - p. 267-276 , 2020
Link: https://doi.org/10.1016/..
 
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8

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase c..:

Hengel, Holger ; Bosso-Lefèvre, Célia ; Grady, George...
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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9

Clinical characteristics of individual organ system disease..:

Grochowsky, Angela ; Gunay-Aygun, Meral ; Gunay-Aygun, Meral
Translational Science of Rare Diseases.  4 (2019)  1-2 - p. 1-23 , 2019
Link: https://doi.org/10.3233/..
 
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10

Using human urine-derived renal epithelial cells to model k..:

Molinari, Elisa ; Sayer, John A. ; Gunay-Aygun, Meral
Translational Science of Rare Diseases.  4 (2019)  1-2 - p. 87-95 , 2019
Link: https://doi.org/10.3233/..
 
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11

Targeted exon skipping rescues ciliary protein composition ..:

Molinari, Elisa ; Ramsbottom, Simon A. ; Srivastava, Shalabh...
Scientific Reports.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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12

Primary ciliary dyskinesia (PCD): A genetic disorder of mot..:

Leigh, Margaret W. ; Horani, Amjad ; Kinghorn, BreAnna...
Translational Science of Rare Diseases.  4 (2019)  1-2 - p. 51-75 , 2019
Link: https://doi.org/10.3233/..
 
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13

Mouse genetics reveals Barttin as a genetic modifier of Jou..:

Ramsbottom, Simon A. ; Thelwall, Peter E. ; Wood, Katrina M....
Proceedings of the National Academy of Sciences.  117 (2019)  2 - p. 1113-1118 , 2019
Link: https://doi.org/10.1073/..
 
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14

The molecular genetics of Joubert syndrome and related cili..:

Parisi, Melissa A. ; Gunay-Aygun, Meral
Translational Science of Rare Diseases.  4 (2019)  1-2 - p. 25-49 , 2019
Link: https://doi.org/10.3233/..
 
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15

Retinal disease in ciliopathies: Recent advances with a foc..:

Chen, Holly Yu ; Welby, Emily ; Li, Tiansen..
Translational Science of Rare Diseases.  4 (2019)  1-2 - p. 97-115 , 2019
Link: https://doi.org/10.3233/..
 
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