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PubPharm (158)
101
Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies
enthalten in:
Indian journal of pediatrics
| 2017
von
Singh, B.
|
Mandal, K.
|
Lallar, M.
| +4
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102
Noonan syndrome in diverse populations
enthalten in:
American journal of medical genetics. Part A
| 2017
von
Kruszka, P.
|
Porras, A.
|
Addissie, Y.
| +59
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103
Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome
enthalten in:
Indian pediatrics
| 2017
von
Narayanan, D.
|
Pandey, H.
|
Moirangthem, A.
| +5
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104
Hotspots in PTPN11 gene among Indian children with Noonan syndrome
enthalten in:
Indian pediatrics
| 2017
von
Narayanan, D.
|
Pandey, H.
|
Moirangthem, A.
| +5
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105
Hotspots in PTPN11 gene among Indian children with Noonan syndrome
enthalten in:
Indian pediatrics
| 2017
von
Narayanan, D.
|
Pandey, H.
|
Moirangthem, A.
| +5
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106
Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome
enthalten in:
Clinical dysmorphology
| 2017
von
Moirangthem, A.
|
Tuteja Bhatia, M.
|
Srivastava, P.
| +3
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107
Fanconi-Bickel Syndrome : Another Novel Mutation in SLC2A2
enthalten in:
Indian journal of pediatrics
| 2017
von
Amita, M.
|
Srivastava, P.
|
Mandal, K.
| +2
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108
Spondyloepiphyseal dysplasia Omani type : CHST3 mutation spectrum and phenotypes in three Indian families
enthalten in:
American journal of medical genetics. Part A
| 2017
von
Srivastava, P.
|
Pandey, H.
|
Agarwal, D.
| +2
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109
Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux
enthalten in:
Journal of genetics
| 2016
von
Srivastava, P.
|
Tuteja, M.
|
Dalal, A.
| +2
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110
Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux
enthalten in:
Journal of genetics
| 2016
von
SRIVASTAVA, P.
|
TUTEJA, M.
|
DALAL, A.
| +2
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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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9
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7
Next-generation sequencing
6
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6
Sanger sequencing
4
Antigen presentation
4
Children
4
Cholestasis
4
Fatty liver
4
Hepato-cerebral form
4
Hypoketotic hypoglycemia
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Infantile liver failure
4
Liver transplantation
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