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Rodan, Lance
193  results:
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1

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/..
 
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2

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/..
 
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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

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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6

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/..
 
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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/..
 
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8

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/..
 
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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

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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11

Disorders of Beta and Gamma Amino Acids:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,
Pearl, Phillip L. ; Rodan, Lance - p. 433-452 , 2022
Link: https://doi.org/10.1007/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

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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