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Burkitt-Wright, Emma
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1

A metabolic signature for NADSYN1-dependent congenital NAD ..:

Szot, Justin O. ; Cuny, Hartmut ; Martin, Ella M.M.A....
Journal of Clinical Investigation.  134 (2024)  4 - p. , 2024
Link: https://doi.org/10.1172/..
 
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2

Personalized recurrence risk assessment following the birth..:

Bernkopf, Marie ; Abdullah, Ummi B. ; Bush, Stephen J....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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3

European Medical Education Initiative on Noonan syndrome: A..:

García-Miñaúr, Sixto ; Burkitt-Wright, Emma ; Verloes, Alain...
European Journal of Medical Genetics.  65 (2022)  1 - p. 104371 , 2022
Link: https://doi.org/10.1016/..
 
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4

Contributors:

, In: Clinical Ophthalmic Genetics and Genomics,
Aleman, Tomas S. ; Amati-Bonneau, Patrizia ; Arveiler, Benoît... - p. xi-xiv , 2022
Link: https://doi.org/10.1016/..
 
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5

Infant excitation/inhibition balance interacts with executi..:

Carter Leno, Virginia ; Begum-Ali, Jannath ; Goodwin, Amy...
Molecular Autism.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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6

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correl..:

Majander, Anna ; Jurkute, Neringa ; Burté, Florence...
American Journal of Ophthalmology.  241 (2022)  - p. 9-27 , 2022
Link: https://doi.org/10.1016/..
 
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7

Management of cardiac aspects in children with Noonan syndr..:

Wolf, Cordula M. ; Zenker, Martin ; Burkitt-Wright, Emma...
European Journal of Medical Genetics.  65 (2022)  1 - p. 104372 , 2022
Link: https://doi.org/10.1016/..
 
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8

Management of growth failure and other endocrine aspects in..:

Edouard, Thomas ; Zenker, Martin ; Östman-Smith, Ingegerd...
European Journal of Medical Genetics.  65 (2022)  1 - p. 104404 , 2022
Link: https://doi.org/10.1016/..
 
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9

Cognitive and Electrophysiological Correlates of Working Me..:

Pobric, Gorana ; Taylor, Jason R. ; Ramalingam, Hemavathy M....
Journal of Autism and Developmental Disorders.  52 (2021)  4 - p. 1478-1494 , 2021
Link: https://doi.org/10.1007/..
 
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10

Autism Spectrum Disorder Symptom Profile Across the RASopat..:

Geoffray, Marie-Maude ; Falissard, Bruno ; Green, Jonathan...
Frontiers in Psychiatry.  11 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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11

Natural history of NF1 c.2970_2972del p.(Met992del): confir..:

Forde, Claire ; Burkitt-Wright, Emma ; Turnpenny, Peter D....
European Journal of Human Genetics.  30 (2021)  3 - p. 291-297 , 2021
Link: https://doi.org/10.1038/..
 
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12

A retrospective regional study of aqueduct stenosis and fou..:

Murphy, Christopher ; Vassallo, Grace ; Burkitt-Wright, Emma...
Clinical Neurology and Neurosurgery.  193 (2020)  - p. 105791 , 2020
Link: https://doi.org/10.1016/..
 
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13

Brittle cornea syndrome: current perspectives [Response to ..:

Walkden, Andrew ; Burkitt-Wright, Emma ; Au, Leon
Clinical Ophthalmology.  13 (2019)  - p. 1895-1896 , 2019
Link: https://doi.org/10.2147/..
 
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14

Personalised virtual gene panels reduce interpretation work..:

Molina-Ramírez, Leslie Patricia ; Kyle, Claire ; Ellingford, Jamie M...
Journal of Medical Genetics.  59 (2021)  4 - p. 393-398 , 2021
Link: https://doi.org/10.1136/..
 
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15

Genotype-Phenotype Correlation in NF1: Evidence for a More ..:

Koczkowska, Magdalena ; Chen, Yunjia ; Callens, Tom...
The American Journal of Human Genetics.  102 (2018)  1 - p. 69-87 , 2018
Link: https://doi.org/10.1016/..
 
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