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PubPharm (394)
1
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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2
Long-Term Outcomes of Disease Modifying Therapies in Gaucher Disease
enthalten in:
Indian journal of pediatrics
| 2024
von
Manisha, R.
|
Phadke, S.
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3
Neurodegeneration with brain iron accumulation : a case series highlighting phenotypic and genotypic diversity in 20 Indian families
enthalten in:
Neurogenetics
| 2023
von
Sait, H.
|
Srivastava, S.
|
Pandey, M.
| +10
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4
T2 olivary nuclei hyperintensities : A characteristic neuroimaging finding in FIG4-related leukoencephalopathy
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Sait, H.
|
Shambhavi, A.
|
Pandey, M.
| +2
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5
Perspectives on the future of dysmorphology
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Solomon, B.
|
Adam, M.
|
Fong, C.
| +8
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6
Perspectives on the future of dysmorphology
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2023
von
Solomon, B.
|
Adam, M.
|
Fong, C.
| +8
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7
T2 olivary nuclei hyperintensities : A characteristic neuroimaging finding in FIG4‐related leukoencephalopathy
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2023
von
Sait, H.
|
Shambhavi, A.
|
Pandey, M.
| +2
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8
Autosomal recessive spinocerebellar ataxia-20 due to a novel SNX14 variant in an Indian girl
enthalten in:
American journal of medical genetics. Part A
| 2022
von
Sait, H.
|
Moirangthem, A.
|
Agrawal, V.
| +1
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9
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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10
Haemophilia management programme : Transformation during COVID-19
enthalten in:
The Indian journal of medical research
| 2022
von
Sait, H.
|
Sajjan, S.
|
Phadke, S.
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394
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Indian journal of pediatrics
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American journal of medical genetics. Part A
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American Journal of Medical Genetics Part C: Se...
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Indian Pediatrics
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22
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21
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15
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8
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7
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6
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5
Indian
5
Loss of heterozygosity
5
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5
Research Support, N.I.H., Extramural
5
Robinow syndrome
5
intellectual disability
4
Basal ganglia calcification
4
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4
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