E-LIB Suche - Ergebnisse für: Neira, Juanita

1

Evaluating the association of biallelic OGDHL variants with..:

Lin, Sheng-Jia ; Vona, Barbara ; Lau, Tracy...
Genome Medicine. 15 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

2

CHOLANGIOCARCINOMA, AN UNRECOGNIZED CANCER TYPE IN GSDIA?:

Murphey, Kristen ; Neira, Juanita ; Flatley, Caitlin
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107465 , 2023

Link: https://doi.org/10.1016/..

3

Arginine to ornithine ratio as a diagnostic marker in patie..:

Huang, Yue ; Sharma, Rajesh ; Feigenbaum, Annette...
Molecular Genetics and Metabolism Reports. 27 (2021) - p. 100735 , 2021

Link: https://doi.org/10.1016/..

4

Arginine to ornithine ratio as a diagnostic marker in patie..:

Huang, Yue ; Sharma, Rajesh ; Feigenbaum, Annette...
Molecular Genetics and Metabolism. 132 (2021) - p. S8 , 2021

Link: https://doi.org/10.1016/..

5

A novel homozygous variant in TBCD in two patients of Guate..:

Dennis, Hailey ; Neira, Juanita ; Ocampo, Claudia...
Molecular Genetics and Metabolism. 132 (2021) - p. S151 , 2021

Link: https://doi.org/10.1016/..

6

Clinical exome sequencing reveals locus heterogeneity and p..:

Yuan, Bo ; Neira, Juanita ; Pehlivan, Davut...
Genetics in Medicine. 21 (2019) 3 - p. 663-675 , 2019

Link: https://doi.org/10.1038/..

7

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise fro..:

Yuan, Bo ; Neira, Juanita ; Gu, Shen...
Human Genetics. 135 (2016) 10 - p. 1161-1174 , 2016

Link: https://doi.org/10.1007/..

8

Diagnosis of adenylosuccinate lyase deficiency by metabolom..:

Donti, Taraka R. ; Cappuccio, Gerarda ; Hubert, Leroy...
Molecular Genetics and Metabolism Reports. 8 (2016) - p. 61-66 , 2016

Link: https://doi.org/10.1016/..

9

USP27Xvariants underlying X-linked intellectual disability ..:

Koch, Intisar ; Slovik, Maya ; Zhang, Yuling...
Life Science Alliance. 7 (2024) 3 - p. e202302258 , 2024

Link: https://doi.org/10.26508..

10

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family I..:

Crawford, Sarah ; Sablon, Elizabeth ; Ali, Nadia...
International Journal of Neonatal Screening. 9 (2023) 4 - p. 53 , 2023

Link: https://doi.org/10.3390/..

11

PEBAT, an Intriguing Neurodegenerative Tubulinopathy Caused..:

Ocampo-Chih, Claudia ; Dennis, Hailey ; Lall, Neil...
Pediatric Neurology. 139 (2023) - p. 59-64 , 2023

Link: https://doi.org/10.1016/..

12

P167: Snyder-Robinson syndrome: An ultrarare polyamine mult..:

Weisshappel, Kaitlin ; Fresneda, Juanita Neira ; Walsh, Matthew
Genetics in Medicine Open. 2 (2024) - p. 101064 , 2024

Link: https://doi.org/10.1016/..

13

P010: The impact of very long-chain Acyl-CoA dehydrogenase ..:

Crawford, Sarah ; Fresneda, Juanita Neira ; Sablon, Elizabeth...
Genetics in Medicine Open. 1 (2023) 1 - p. 100020 , 2023

Link: https://doi.org/10.1016/..

14

Evaluating the association of biallelic OGDHL variants with..:

Lin, Sheng-Jia ; Vona, Barbara ; Lau, Tracy...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10688095/. , 2023

Link: http://www.ncbi.nlm.nih...

15

Evaluating the association of biallelic OGDHL variants with..:

Lin, Sheng-Jia ; Vona, Barbara ; Lau, Tracy...
https://discovery.ucl.ac.uk/id/eprint/10183213/1/s13073-023-01258-4.pdf. , 2023

Link: https://discovery.ucl.ac..