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Rodan, Lance
72
results:
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english (71)
spanish (1)
Sorted by: Relevance
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?
1
P208: Insights into diagnostic yield and novel genetic etio..:
Lai, Abbe
;
Neil, Jennifer
;
Rodan, Lance
...
Genetics in Medicine Open. 2 (2024) - p. 101105 , 2024
Link:
https://doi.org/10.1016/..
?
2
P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in ..:
Biddle, Joseph
;
Campbell, Teresa
;
Sanchis-Juan, Alba
...
Genetics in Medicine Open. 2 (2024) - p. 101136 , 2024
Link:
https://doi.org/10.1016/..
?
3
Diagnostic Yield of CSF Testing in Infants for Disorders of..:
Kessler, Riley
;
Fung, France W.
;
Patel, Amisha
...
Neurology. 102 (2024) 9 - p. , 2024
Link:
https://doi.org/10.1212/..
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4
O03: Exploiting narrow therapeutic windows: Utility of the ..:
Gerald, Dayebgadoh
;
Tortorelli, Silvia
;
White, Amy
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100004 , 2023
Link:
https://doi.org/10.1016/..
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5
Biallelic PRMT7 pathogenic variants are associated with a r..:
Cali, Elisa
;
Suri, Mohnish
;
Scala, Marcello
...
Genetics in Medicine. 25 (2023) 1 - p. 135-142 , 2023
Link:
https://doi.org/10.1016/..
?
6
Gain and loss of function variants in EZH1 disrupt neurogen..:
Gracia-Diaz, Carolina
;
Zhou, Yijing
;
Yang, Qian
...
Nature Communications. 14 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
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7
De novo missense variants in phosphatidylinositol kinase PI..:
Morleo, Manuela
;
Venditti, Rossella
;
Theodorou, Evangelos
...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1377-1393 , 2023
Link:
https://doi.org/10.1016/..
?
8
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: ..:
Guerrini, Renzo
;
Mei, Davide
;
Kerti-Szigeti, Katalin
...
Brain. 145 (2022) 8 - p. 2687-2703 , 2022
Link:
https://doi.org/10.1093/..
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9
SEMA6B variants cause intellectual disability and alter den..:
Cordovado, Amélie
;
Schaettin, Martina
;
Jeanne, Médéric
...
Human Molecular Genetics. 31 (2022) 19 - p. 3325-3340 , 2022
Link:
https://doi.org/10.1093/..
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10
Heterozygous variants inPRPF8are associated with neurodevel..:
O'Grady, Lauren
;
Schrier Vergano, Samantha A.
;
Hoffman, Trevor L.
...
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2750-2759 , 2022
Link:
https://doi.org/10.1002/..
?
11
Novel variants in the stem cell niche factor WNT2B define t..:
Zhang, Yanjia Jason
;
Jimenez, Lissette
;
Azova, Svetlana
...
European Journal of Human Genetics. 29 (2021) 6 - p. 998-1007 , 2021
Link:
https://doi.org/10.1038/..
?
12
Mutations causing Lopes-Maciel-Rodan syndrome are huntingti..:
Jung, Roy
;
Lee, Yejin
;
Barker, Douglas
...
Human Molecular Genetics. 30 (2021) 3-4 - p. 135-148 , 2021
Link:
https://doi.org/10.1093/..
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13
Heterozygous variants in PRPF8 are associated with neurodev..:
O'Grady, Lauren
;
Sweetser, David
;
Gold, Nina
...
Molecular Genetics and Metabolism. 132 (2021) - p. S109-S110 , 2021
Link:
https://doi.org/10.1016/..
?
14
Uridine‐responsive epileptic encephalopathy due to inherite..:
McGraw, Christopher M.
;
Mahida, Sonal
;
Jayakar, Parul
...
Annals of Clinical and Translational Neurology. 8 (2021) 3 - p. 716-722 , 2021
Link:
https://doi.org/10.1002/..
?
15
Medulloblastoma in the setting of megalencephaly polymicrog..:
Hadzipasic, Muhamed
;
Karsten, Madeline B.
;
Olson, Heather
...
American Journal of Medical Genetics Part A. 185 (2021) 5 - p. 1614-1618 , 2021
Link:
https://doi.org/10.1002/..
1-15