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PubPharm (40)
1
A Novel Large Deletion in the EVER1 Gene in a Family With Epidermodysplasia Verruciformis From India
enthalten in:
The American Journal of dermatopathology
| 2024
von
Godfred, A.
|
Thomas, Z.
|
Peter, D.
| +9
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2
The BRCA mutation spectrum among breast and ovarian cancers in India : highlighting the need to screen BRCA1 185delAG among South Indians
enthalten in:
European journal of human genetics : EJHG
| 2024
von
John, A.
|
Singh, A.
|
Yadav, P.
| +21
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3
Genetic predisposition and high exposure to colistin in the early treatment period as independent risk factors for colistin-induced nephrotoxicity
enthalten in:
Clinical and translational science
| 2024
von
Mathew, S.
|
Chapla, A.
|
Venkatesan, P.
| +7
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4
High carrier frequency of CYP21A2 gene mutations in Southern India - underscoring the need for genetic testing in Congenital Adrenal Hyperplasia
enthalten in:
Endocrine
| 2024
von
Ravichandran, L.
|
Paul, S.
|
A, R.
| +6
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5
Genetic predisposition and high exposure to colistin in the early treatment period as independent risk factors for colistin‐induced nephrotoxicity
enthalten in:
Clinical and Translational Science
| 2024
von
Mathew, S.
|
Chapla, A.
|
Venkatesan, P.
| +7
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6
Focused panel sequencing points to genetic predisposition in non-cirrhotic intrahepatic portal hypertension patients in India
enthalten in:
Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology
| 2023
von
Aaron, R.
|
Premkumar, K.
|
Chapla, A.
| +12
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7
Clinical Features of Unrecognized Congenital Adrenal Hyperplasia Due to 17α-hydroxylase Deficiency Since Adolescence : A Case Report
enthalten in:
Journal of the ASEAN Federation of Endocrine Societies
| 2023
von
Rashmi, K.
|
Ravichandran, L.
|
Roy, A.
| +5
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8
Cathepsin K Mutation-A Subtle Clinical Presentation
enthalten in:
Journal of the Endocrine Society
| 2022
von
Nandipati, V.
|
Chapla, A.
|
Jebasingh, F.
| +5
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9
An Atypical Form of Diabetes Among Individuals With Low BMI
enthalten in:
Diabetes care
| 2022
von
Lontchi-Yimagou, E.
|
Dasgupta, R.
|
Anoop, S.
| +20
CommentIn: Diabetes Care. 2022 Nov 1;45(11):e157-e158. - PMID 36318673
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10
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India
enthalten in:
Pediatric dermatology
| 2022
von
Chiramel, M.
|
Mathew, L.
|
Athirayath, R.
| +5
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The journal of pediatric endocrinology and meta...
3
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2
European journal of pharmacology
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Indian journal of endocrinology and metabolism
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6
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5
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3
Insulin
3
next-generation sequencing
2
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2
Congenital Adrenal Hyperplasia
2
Genetic variants
2
Iron deficiency anemia
2
Iron supplements
2
Pregnancy
1
1-alpha hydroxylase
1
1406-16-2
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17α-hydroxylase deficiency
1
21 – hydroxylase deficiency
1
46
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7733-02-0
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9007-34-5
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9007-36-7
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Erscheinungszeitraum
20
2020-
20
2010-2019
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