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Wilnai, Yael
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1

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygou..:

Patterson, Karynne ; Chong, Jessica X. ; Chung, Doug D....
American Journal of Ophthalmology.  258 (2024)  - p. 183-195 , 2024
Link: https://doi.org/10.1016/..
 
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2

Hereditary orotic aciduria identified by newborn screening:

Staretz-Chacham, Orna ; Damseh, Nadirah S. ; Daas, Suha...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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3

Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with No..:

Ponger, Penina ; Kurolap, Alina ; Lerer, Israela...
Journal of Molecular Neuroscience.  72 (2022)  8 - p. 1715-1723 , 2022
Link: https://doi.org/10.1007/..
 
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4

Looking for the skeleton in the closet—rare genetic diagnos..:

Brener, Avivit ; Zeitlin, Leonid ; Wilnai, Yael...
Acta Diabetologica.  59 (2022)  5 - p. 711-719 , 2022
Link: https://doi.org/10.1007/..
 
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5

Addition of galactose‐1‐phosphate measurement enhances newb..:

Daas, Suha ; Abu Salah, Nasser ; Anikster, Yair...
Journal of Inherited Metabolic Disease.  46 (2022)  2 - p. 232-242 , 2022
Link: https://doi.org/10.1002/..
 
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6

Identification of Disease Gene for Camurati-Engelmann Disea..:

Wang, Zheng ; Xue, Jingyi ; Nishimura, Gen...
Bone Reports.  16 (2022)  - p. 101561 , 2022
Link: https://doi.org/10.1016/..
 
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7

Heterozygous loss of WBP11 function causes multiple congeni..:

Martin, Ella M M A ; Enriquez, Annabelle ; Sparrow, Duncan B...
Human Molecular Genetics.  29 (2020)  22 - p. 3662-3678 , 2020
Link: https://doi.org/10.1093/..
 
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8

The intrinsically disordered C terminus of troponin T binds..:

Johnston, Jamie R. ; Landim-Vieira, Maicon ; Marques, Mayra A....
Journal of Biological Chemistry.  294 (2019)  52 - p. 20054-20069 , 2019
Link: https://doi.org/10.1074/..
 
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9

Prenatal treatment of ornithine transcarbamylase deficiency:

Wilnai, Yael ; Blumenfeld, Yair J. ; Cusmano, Kristina...
Molecular Genetics and Metabolism.  123 (2018)  3 - p. 297-300 , 2018
Link: https://doi.org/10.1016/..
 
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10

The phenotype of the musculocontractural type of Ehlers‐Dan..:

Janecke, Andreas R. ; Li, Ben ; Boehm, Manfred...
American Journal of Medical Genetics Part A.  170 (2015)  1 - p. 103-115 , 2015
Link: https://doi.org/10.1002/..
 
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11

Clinical whole-exome sequencing: are we there yet?:

Atwal, Paldeep Singh ; Brennan, Marie-Louise ; Cox, Rachel...
Genetics in Medicine.  16 (2014)  9 - p. 717-719 , 2014
Link: https://doi.org/10.1038/..
 
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12

Severe multi-systemic presentation of COX10 deficiency:

Wilnai, Yael ; Cox, Rachel ; Bai, Renkui.
Mitochondrion.  13 (2013)  6 - p. 926 , 2013
Link: https://doi.org/10.1016/..
 
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13

Axial spondylometaphyseal dysplasia with retinitis pigmento..:

Reinstein, Eyal ; Okenfuss, Ericka B. ; Wadhawan, Isha...
Journal of Applied Genetics.  54 (2013)  2 - p. 231-234 , 2013
Link: https://doi.org/10.1007/..
 
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14

Atypical amyoplasia congenita in an infant with Leigh syndr..:

Wilnai, Yael ; Seaver, Laurie H. ; Enns, Gregory M.
American Journal of Medical Genetics Part A.  158A (2012)  9 - p. 2353-2357 , 2012
Link: https://doi.org/10.1002/..
 
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15

Higher rates of neonatal respiratory morbidity after electi..:

Helpman, Limor ; Wilnai, Yael ; Ascher-Landsberg, Jessica...
American Journal of Obstetrics and Gynecology.  189 (2003)  6 - p. S141 , 2003
Link: https://doi.org/10.1016/..
 
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