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PubPharm (128)
51
A Treatable Cause of Global Developmental Delay with Autism Spectrum Disorder Due to Cobalamin Related Remethylation Disorder
enthalten in:
Indian journal of pediatrics
| 2022
von
Gowda, V.
|
Srinivasan, V.
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52
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
enthalten in:
Brain : a journal of neurology
| 2022
von
van der Knoop, M.
|
Maroofian, R.
|
Fukata, Y.
| +45
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53
Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1
enthalten in:
Indian journal of pediatrics
| 2022
von
Gowda, V.
|
Reddy, V.
|
Srinivasan, V.
| +1
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54
Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss
enthalten in:
Journal of pediatric genetics
| 2022
von
Gowda, V.
|
Vignesh, S.
|
Nagarajan, B.
| +4
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55
A Treatable Cause of Global Developmental Delay with Autism Spectrum Disorder Due to Cobalamin Related Remethylation Disorder
enthalten in:
Indian journal of pediatrics
| 2022
von
Gowda, V.
|
Srinivasan, V.
Wird geladen...
56
A Treatable Cause of Global Developmental Delay with Autism Spectrum Disorder Due to Cobalamin Related Remethylation Disorder
enthalten in:
Indian journal of pediatrics
| 2022
von
Gowda, V.
|
Srinivasan, V.
Wird geladen...
57
Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1
enthalten in:
Indian journal of pediatrics
| 2022
von
Gowda, V.
|
Reddy, V.
|
Srinivasan, V.
| +1
Wird geladen...
58
Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1
enthalten in:
Indian journal of pediatrics
| 2022
von
Gowda, V.
|
Reddy, V.
|
Srinivasan, V.
| +1
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59
Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene
enthalten in:
Annals of Indian Academy of Neurology
| 2022
von
Gowda, V.
|
Srinivasan, V.
|
Reddy, V.
| +1
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60
Infantile Tremor Syndrome Presenting as Stroke
enthalten in:
Indian journal of pediatrics
| 2022
von
Gowda, V.
|
Umesh, N.
|
Srinivasan, V.
| +1
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Indian journal of pediatrics
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Journal of pediatric genetics
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Genetics in medicine : official journal of the ...
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Indian pediatrics
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India
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neurodevelopmental disorders
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Biotin thiamine responsive basal ganglia disease
3
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Biology
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C19orf12 gene
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21
2010-2019
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