E-LIB Suche - Ergebnisse für: Sheela Nampoothiri

1

Biallelic loss of function variants in FUZ result in an oro..:

Singh, Swati ; Nampoothiri, Sheela ; Narayanan, Dhanya Lakshmi...
European Journal of Human Genetics. 32 (2024) 8 - p. 1022-1026 , 2024

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

2

Loss of TBC1D2B causes a progressive neurological disorder ..:

Harms, Frederike L. ; Rexach, Jessica Erin ; Efthymiou, Stephanie...
European Journal of Human Genetics. 32 (2024) 5 - p. 558-566 , 2024

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

3

Genome sequencing enables diagnosis and treatment of SLC5A6..:

Riley, Lisa G. ; Sabui, Subrata ; Said, Hamid M....
European Journal of Human Genetics. , 2024

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

4

Genetic and phenotypic landscape of pediatric‐onset epileps..:

Majethia, Purvi ; Kaur, Namanpreet ; Mascarenhas, Selinda...
Clinical Genetics. 105 (2024) 6 - p. 639-654 , 2024

Link: https://doi.org/10.1111/..

5

Lysosomal storage disorders identified in adult population ..:

Sheth, Jayesh ; Nair, Aadhira ; Bhavsar, Riddhi...
JIMD Reports. 65 (2024) 2 - p. 85-101 , 2024

Link: https://doi.org/10.1002/..

6

Loss-of-function OGFRL1 variants identified in autosomal re..:

Kittaka, Mizuho ; Mizuno, Noriyoshi ; Morino, Hiroyuki...
JBMR Plus. 8 (2024) 6 - p. , 2024

Link: https://doi.org/10.1093/..

7

Development, validation and application of single molecule ..:

Sheth, Harsh ; Nair, Aadhira ; Bhavsar, Riddhi...
Human Genomics. 18 (2024) 1 - p. , 2024

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

8

Breaking Free from Your Fetal Chains: A Case-Based Review o..:

Varughese, Pearl Mary ; Thomas, Sajan ; Nampoothiri, Sheela.
Neonatal Medicine. 30 (2023) 1 - p. 14-19 , 2023

Link: https://doi.org/10.5385/..

9

Cost-effective genotyping for classical congenital adrenal ..:

Monteiro, Ana ; Pavithran, Praveen V. ; Puthukulangara, Manuprasad...
Hormones. 22 (2023) 2 - p. 311-320 , 2023

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

10

De novo variants underlying monogenic syndromes with intell..:

Pande, Shruti ; Majethia, Purvi ; Nair, Karthik...
European Journal of Human Genetics. , 2023

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

11

A bi‐allelic missense change c.638A > G in matrix metallopr..:

Nampoothiri, Sheela ; Dsouza, Jeanne Maria ; Yesodharan, Dhanya...
Clinical Genetics. 103 (2022) 3 - p. 369-370 , 2022

Link: https://doi.org/10.1111/..

12

eP208: GSD IX natural history and novel liver disease sever..:

Paschall, Anna ; Mavis, Alisha ; Rikhi, Aruna...
Genetics in Medicine. 24 (2022) 3 - p. S129-S130 , 2022

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

13

Regulation of Liprin-α phase separation by CASK is disrupte..:

Tibbe, Debora ; Ferle, Pia ; Krisp, Christoph...
Life Science Alliance. 5 (2022) 10 - p. e202201512 , 2022

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

14

Monosomy 1p36: Report of a cohort of 13 Asian Indian patien..:

Gupta, Neerja ; Kaur, Ravneet ; Phadke, Shubha...
American Journal of Medical Genetics Part A. 188 (2022) 4 - p. 1317-1322 , 2022

Link: https://doi.org/10.1002/..

15

Novel biallelic variants expand the SLC5A6-related phenotyp..:

Holling, Tess ; Nampoothiri, Sheela ; Tarhan, Bedirhan...
European Journal of Human Genetics. 30 (2022) 4 - p. 439-449 , 2022

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