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PubPharm (158)
31
Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder : the East India Tubulopathy Gene Study
enthalten in:
Pediatric nephrology (Berlin, Germany)
| 2022
von
Sinha, R.
|
Pradhan, S.
|
Banerjee, S.
| +13
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32
COASY related pontocerebellar hypoplasia type 12 : A common Indian mutation with expansion of the phenotypic spectrum
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Mishra, R.
|
Kulshreshtha, S.
|
Mandal, K.
| +10
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33
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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34
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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35
Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing
enthalten in:
European journal of medical genetics
| 2022
von
Masih, S.
|
Moirangthem, A.
|
Shambhavi, A.
| +8
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36
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
enthalten in:
European journal of medical genetics
| 2022
von
Agrawal, N.
|
Verma, G.
|
Saxena, D.
| +17
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37
Clinical, Biochemical, Tumoural and Mutation Profile of VHL- and MEN2A-Associated Pheochromocytoma : A Comparative Study
enthalten in:
World journal of surgery
| 2022
von
Dhanda, M.
|
Agarwal, A.
|
Mandal, K.
| +6
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38
Role of miRNA polymorphism in recurrent pregnancy loss : a systematic review and meta-analysis
enthalten in:
Biomarkers in medicine
| 2022
von
Srivastava, P.
|
Bamba, C.
|
Chopra, S.
| +1
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39
Molecular analysis of severe hemophilia B in Indian families : Identification of mutational hotspot and novel variants
enthalten in:
International journal of laboratory hematology
| 2022
von
Agrawal, N.
|
Kumar, R.
|
Masih, S.
| +7
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40
Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study
enthalten in:
Pediatric nephrology
| 2022
von
Sinha, R.
|
Pradhan, S.
|
Banerjee, S.
| +13
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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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Next-generation sequencing
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Sanger sequencing
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Antigen presentation
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4
Cholestasis
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Fatty liver
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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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