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PubPharm (128)
1
Molybdenum Cofactor Deficiency (MoCD) Masquerading as Stroke-Like Episodes
enthalten in:
Indian journal of pediatrics
| 2024
von
Markose, A.
|
Gowda, V.
|
Reddy, V.
| +1
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2
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Kaiyrzhanov, R.
|
Ortigoza-Escobar, J.
|
Stringer, B.
| +27
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3
Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings
enthalten in:
Indian journal of pediatrics
| 2024
von
Gowda, V.
|
Reddy, V.
|
Krishnanada, V.
| +1
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4
Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency
enthalten in:
Indian journal of pediatrics
| 2024
von
Gowda, V.
|
Siddiqa, A.
|
Srinivasan, V.
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5
Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy : Authors' Reply
enthalten in:
Indian journal of pediatrics
| 2024
von
Gowda, V.
|
Babu, S.
|
Kinhal, U.
| +1
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6
Amyotrophic Lateral Sclerosis due to ALS2 Pathogenic Variant Masquerading as Cerebral Palsy
enthalten in:
Indian journal of pediatrics
| 2024
von
Gowda, V.
|
Babu, S.
|
Kinhal, U.
| +1
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7
Variants in DOK7 results in fetal akinesia deformation sequence : A case report and review of literature
enthalten in:
Clinical genetics
| 2024
von
Tiwari, A.
|
Srinivasan, V.
|
Phadke, S.
| +1
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8
Biallelic variation in the choline and ethanolamine transporter
FLVCR1
underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
enthalten in:
bioRxiv.org
| 2024
von
Calame, D.
|
Wong, J.
|
Panda, P.
| +60
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9
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Calame, D.
|
Wong, J.
|
Panda, P.
| +60
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10
Loss of symmetric cell division of apical neural progenitors drives
DENND5A
-related developmental and epileptic encephalopathy
enthalten in:
bioRxiv.org
| 2024
von
Banks, E.
|
Francis, V.
|
Lin, S.
| +81
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128
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Zeitschriftentitel
83
Indian journal of pediatrics
6
Journal of pediatric genetics
6
Journal of pediatric neurosciences
5
Annals of Indian Academy of Neurology
4
Genetics in medicine : official journal of the ...
2
Human mutation
2
bioRxiv.org
2
medRxiv : the preprint server for health sciences
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Advanced biomedical research
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American Journal of Medical Genetics Part C: Se...
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American journal of medical genetics. Part A
1
Annals of clinical and translational neurology
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1
Brain : a journal of neurology
1
Clinical dysmorphology
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1
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Epilepsia open
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Indian pediatrics
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Thema
35
Journal Article
27
Letter
22
Case Reports
11
Research Support, Non-U.S. Gov't
4
Dystonia
4
India
4
neurodevelopmental disorders
3
Biotin thiamine responsive basal ganglia disease
3
Neuroregression
2
570
2
Biology
2
C19orf12 gene
2
Globus pallidus
2
MPAN
2
Membrane Transport Proteins
2
NBIA
2
P6YC3EG204
2
Preprint
2
Research Support, N.I.H., Extramural
2
Review
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Erscheinungszeitraum
107
2020-
21
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
126
Englisch
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