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PubPharm (158)
81
Vici Syndrome with a Novel Mutation in EPG5
enthalten in:
Indian pediatrics
| 2019
von
Moirangthem, A.
|
Mandal, K.
|
Ghosh, A.
| +1
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82
Vici Syndrome with a Novel Mutation in EPG5
enthalten in:
Indian Pediatrics
| 2019
von
Moirangthem, A.
|
Mandal, K.
|
Ghosh, A.
| +1
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83
Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children
enthalten in:
The journal of pediatric endocrinology and metabolism
| 2019
von
Gupta, S.
|
Joshi, K.
|
Zaidi, G.
| +9
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84
Unusual Cause of Bidirectional Ventricular Rhythm
enthalten in:
JACC. Case reports
| 2019
von
Chakraborty, P.
|
Isser, H.
|
Arava, S.
| +3
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85
Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children
enthalten in:
The journal of pediatric endocrinology and metabolism
| 2019
von
Gupta, S.
|
Joshi, K.
|
Zaidi, G.
| +9
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86
Expanding the phenotype in autosomal dominant mental retardation-24 : a novel variation in DEAF1 gene
enthalten in:
Clinical dysmorphology
| 2019
von
Sharma, P.
|
Gambhir, P.
|
Phadke, S.
| +1
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87
Cytogenetic microarray in structurally normal and abnormal foetuses : a five year experience elucidating increasing acceptance and clinical utility
enthalten in:
Journal of genetics
| 2019
von
Lallar, M.
|
Srivastava, P.
|
Rai, A.
| +3
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88
Cytogenetic microarray in structurally normal and abnormal foetuses: a five years experience elucidating increasing acceptance and clinical utility
enthalten in:
Journal of genetics
| 2019
von
Lallar, M.
|
Srivastava, P.
|
Rai, A.
| +3
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89
Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL)
enthalten in:
Indian journal of pediatrics
| 2018
von
Mishra, S.
|
Pandey, H.
|
Srivastava, P.
| +2
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90
Study of the association of forkhead box P3 (FOXP3) gene polymorphisms with unexplained recurrent spontaneous abortions in Indian population
enthalten in:
Journal of genetics
| 2018
von
Mishra, S.
|
Srivastava, A.
|
Mandal, K.
| +1
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Medienart
158
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Zeitschriftentitel
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Indian journal of pediatrics
20
Indian pediatrics
15
Clinical dysmorphology
11
Journal of genetics
7
American journal of medical genetics. Part A
4
Annals of hematology
4
European journal of medical genetics
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Human mutation
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Journal of clinical immunology
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Pediatric nephrology
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American Journal of Medical Genetics Part C: Se...
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Journal of pediatric genetics
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Pediatric nephrology (Berlin, Germany)
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World journal of surgery
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Indian journal of gastroenterology
2
Indian pacing and electrophysiology journal
2
Journal of clinical research in pediatric endoc...
2
Journal of pediatric neurosciences
2
MedComm
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Research Support, Non-U.S. Gov't
9
Letter
8
India
7
Next-generation sequencing
6
Review
6
Sanger sequencing
4
Antigen presentation
4
Children
4
Cholestasis
4
Fatty liver
4
Hepato-cerebral form
4
Hypoketotic hypoglycemia
4
Infantile liver failure
4
Liver transplantation
4
Lysosomal storage disorder
4
Metabolic liver disease
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Mitochondrial hepatopathy
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2010-2019
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