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X
Valle, David
10619  Ergebnisse:
Personensuche X
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1

The impact of the Turkish population variome on the genomic..:

Coban-Akdemir, Zeynep ; Song, Xiaofei ; Ceballos, Francisco C....
Genetics in Medicine Open.  2 (2024)  - p. 101830 , 2024
Link: https://doi.org/10.1016/..
 
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2

Rare exonic CELSR3 variants identified in Bladder Exstrophy..:

Jelin, Angie C. ; Sopko, Nikolai ; Sobreira, Nara...
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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3

The remarkable journey of one female individual with ornith..:

Forsyth, RaeLynn ; Peretz, Ryan H. ; Dempsey, Angela...
JIMD Reports.  64 (2023)  3 - p. 233-237 , 2023
Link: https://doi.org/10.1002/..
 
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4

P669: VariantMatcher: A tool to enable connections amongst ..:

Sobreira, Nara ; Griffith, Sean ; Antonescu, Corina...
Genetics in Medicine Open.  1 (2023)  1 - p. 100734 , 2023
Link: https://doi.org/10.1016/..
 
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5

De novo variants identified by trio whole exome sequencing ..:

Jelin, Angie C. ; Wohler, Elizabeth ; Martin, Renan...
American Journal of Medical Genetics Part A.  194 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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6

A Brazilian case of IFAP syndrome with severe congenital ic..:

Migliavacca, Michele Patricia ; Fock, Rodrigo Ambrosio ; Almeida, Nadia...
Revista Paulista de Pediatria.  41 (2023)  - p. , 2023
Link: https://doi.org/10.1590/..
 
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7

Anxiety and dysautonomia symptoms in patients with a NaV1.7..:

de Cássia Collaço, Rita ; Lammens, Maxime ; Blevins, Carley...
Clinical Autonomic Research.  34 (2023)  1 - p. 191-201 , 2023
Link: https://doi.org/10.1007/..
 
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8

A promoter variant in the OTC gene associated with late and..:

Han, Sangwoo T. ; Anderson, Katherine J. ; Bjornsson, Hans T...
Journal of Inherited Metabolic Disease.  45 (2022)  4 - p. 710-718 , 2022
Link: https://doi.org/10.1002/..
 
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9

Variant‐level matching for diagnosis and discovery: Challen..:

Rodrigues, Eliete da S. ; Griffith, Sean ; Martin, Renan...
Human Mutation.  , 2022
Link: https://doi.org/10.1002/..
 
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10

A neonate with ornithine aminotransferase deficiency; insig..:

Kaczmarczyk, Aneta ; Baker, Mark ; Diddle, Julianna...
Molecular Genetics and Metabolism Reports.  31 (2022)  - p. 100857 , 2022
Link: https://doi.org/10.1016/..
 
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11

The impact of GeneMatcher on international data sharing and..:

Hamosh, Ada ; Wohler, Elizabeth ; Martin, Renan...
Human Mutation.  , 2022
Link: https://doi.org/10.1002/..
 
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12

Disruption of the HIF-1 pathway in individuals with Ollier ..:

Poll, Sarah R. ; Martin, Renan ; Wohler, Elizabeth...
PLOS Genetics.  18 (2022)  12 - p. e1010504 , 2022
Link: https://doi.org/10.1371/..
 
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13

Disorders of Ornithine and Proline Metabolism:

, In: Inborn Metabolic Diseases,
Baumgartner, Matthias R. ; Valle, David ; Dionisi-Vici, Carlo - p. 423-436 , 2022
Link: https://doi.org/10.1007/..
 
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14

Centers for Mendelian Genomics: A decade of facilitating ge..:

Baxter, Samantha M. ; Posey, Jennifer E. ; Lake, Nicole J....
Genetics in Medicine.  24 (2022)  4 - p. 784-797 , 2022
Link: https://doi.org/10.1016/..
 
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15

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis..:

Wohler, Elizabeth ; Martin, Renan ; Griffith, Sean...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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