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Dhanya Yesodharan
40
results:
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Online (40)
Mediatypes
Articles (Online) (28)
OpenAccess-fulltext (12)
Sorted by: Relevance
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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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
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/..
1-15