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Yesodharan, Dhanya
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1

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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2

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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3

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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4

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/..
 
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5

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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6

Protein instability associated with AARS1 and MARS1 mutatio..:

Botta, Elena ; Theil, Arjan F ; Raams, Anja...
Human Molecular Genetics.  30 (2021)  18 - p. 1711-1720 , 2021
Link: https://doi.org/10.1093/..
 
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7

Biallelic variants in VPS50 cause a neurodevelopmental diso..:

Schneeberger, Pauline E ; Nampoothiri, Sheela ; Holling, Tess...
Brain.  144 (2021)  10 - p. 3036-3049 , 2021
Link: https://doi.org/10.1093/..
 
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8

Founder effects of the homogentisate 1,2-dioxygenase (HGD) ..:

Danda, Sumita ; Mohan, Sony ; Devaraj, Prabavathi...
Clinical Rheumatology.  39 (2020)  9 - p. 2743-2749 , 2020
Link: https://doi.org/10.1007/..
 
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9

Lipoprotein Lipase Deficiency:

Kuthiroly, Shwetha ; Yesodharan, Dhanya ; Radhakrishnan, Natasha...
The Indian Journal of Pediatrics.  88 (2020)  2 - p. 147-153 , 2020
Link: https://doi.org/10.1007/..
 
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10

Lethal Cenani Lenz syndrome in two consecutive pregnancies:..:

Yesodharan, Dhanya ; Krishnan, Vivek ; Nair, Indu R....
American Journal of Medical Genetics Part A.  185 (2020)  2 - p. 620-624 , 2020
Link: https://doi.org/10.1002/..
 
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11

Fabry disease in India: A multicenter study of the clinical..:

Nampoothiri, Sheela ; Yesodharan, Dhanya ; Bhattacherjee, Amrita...
JIMD Reports.  56 (2020)  1 - p. 82-94 , 2020
Link: https://doi.org/10.1002/..
 
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12

Turner syndrome in diverse populations:

Kruszka, Paul ; Addissie, Yonit A. ; Tekendo‐Ngongang, Cedrik...
American Journal of Medical Genetics Part A.  182 (2019)  2 - p. 303-313 , 2019
Link: https://doi.org/10.1002/..
 
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13

Recurrence of Trisomic Pregnancies in Four Families: A Cyto..:

Nampoothiri, Sheela ; Saadi, Abdul Vahab ; Girisha, Katta M....
Journal of Fetal Medicine.  6 (2019)  2 - p. 81-87 , 2019
Link: https://doi.org/10.1007/..
 
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14

Ptosis as a unique hallmark for autosomal recessive WNT1‐as..:

Nampoothiri, Sheela ; Guillemyn, Brecht ; Elcioglu, Nursel...
American Journal of Medical Genetics Part A.  179 (2019)  6 - p. 908-914 , 2019
Link: https://doi.org/10.1002/..
 
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15

Four novel mutations in EFNB1 in Indian patients with crani..:

Howaldt, Antonia ; Nampoothiri, Sheela ; Yesodharan, Dhanya...
Journal of Human Genetics.  64 (2019)  9 - p. 867-873 , 2019
Link: https://doi.org/10.1038/..
 
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