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PubPharm (158)
21
MPV17 mutation–related mitochondrial DNA depletion syndrome: A case series in infants
enthalten in:
Indian Journal of Gastroenterology
| 2023
von
Samanta, A.
|
Srivastava, A.
|
Mandal, K.
| +2
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22
Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population
enthalten in:
Frontiers in genetics
| 2023
von
Srivastava, P.
|
Bamba, C.
|
Chopra, S.
| +5
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23
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data
enthalten in:
Prenatal Diagnosis
| 2023
von
Saxena, D.
|
Srivastava, S.
|
Maurya, R.
| +3
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24
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally : Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance
enthalten in:
Fetal and pediatric pathology
| 2022
von
Srivastava, S.
|
Manisha, R.
|
Dwivedi, A.
| +4
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25
A Neonate with Dysmorphic Features and Respiratory Distress
enthalten in:
NeoReviews
| 2022
von
Bajpai, S.
|
Mandal, K.
|
Naranje, K.
| +1
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26
Familial Infantile Liver Failure Syndrome 1 : Novel LARS1 Gene Mutation
enthalten in:
Indian journal of pediatrics
| 2022
von
Singh, A.
|
Mandal, K.
|
Verma, M.
| +2
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27
Status of Catalase, Glutathione Peroxidase, Glutathione S-Transferase, and Myeloperoxidase Gene Polymorphisms in Beta-Thalassemia Major Patients to Assess Oxidative Injury and Its Association with Enzyme Activities
enthalten in:
Journal of pediatric genetics
| 2022
von
Tripathi, P.
|
Agarwal, S.
|
Tewari, S.
| +1
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28
A Hypotonic Neonate
enthalten in:
NeoReviews
| 2022
von
Roy, A.
|
Naranje, K.
|
Mandal, K.
| +1
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29
Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting
enthalten in:
The Egyptian journal of medical human genetics
| 2022
von
Dwivedi, A.
|
Moirangthem, A.
|
Pandey, H.
| +15
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30
Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting
enthalten in:
The Egyptian journal of medical human genetics
| 2022
von
Dwivedi, A.
|
Moirangthem, A.
|
Pandey, H.
| +15
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Medienart
158
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Indian journal of pediatrics
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Indian pediatrics
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Clinical dysmorphology
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American journal of medical genetics. Part A
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Annals of hematology
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European journal of medical genetics
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American Journal of Medical Genetics Part C: Se...
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Next-generation sequencing
6
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Sanger sequencing
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Antigen presentation
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4
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4
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Hepato-cerebral form
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Hypoketotic hypoglycemia
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Infantile liver failure
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Liver transplantation
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2010-2019
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