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Nampoothiri, Sheela
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1

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/..
 
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2

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

Singh, Swati ; Nampoothiri, Sheela ; Narayanan, Dhanya Lakshmi...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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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/..
 
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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/..
 
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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/..
 
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11

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/..
 
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12

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..
 
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13

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/..
 
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14

The E262K mutation in Lamin A links nuclear proteostasis im..:

Ghosh, Debasish Kumar ; Pande, Shruti ; Kumar, Jeevan...
Aging Cell.  21 (2022)  11 - p. , 2022
Link: https://doi.org/10.1111/..
 
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15

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/..
 
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