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PubPharm (582)
1
Hematopoietic Stem Cell Transplantation for Storage Disorders : Present Status
enthalten in:
Indian journal of pediatrics
| 2024
von
Chakraborty, S.
|
Gupta, A.
|
Gupta, N.
| +3
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2
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Endrakanti, M.
|
Sharma, J.
|
Ethayathulla, A.
| +4
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3
Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Langeh, N.
|
Ansari, M.
|
Kabra, M.
| +1
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4
Hand Radiographs in Skeletal Dysplasia : A Pictorial Review
enthalten in:
The Indian journal of radiology & imaging
| 2024
von
S, D.
|
Chandola, S.
|
Jain, A.
| +3
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5
Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality
enthalten in:
Mitochondrion
| 2024
von
Sabharwal, A.
|
Gupta, V.
|
Kv, S.
| +14
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6
Minimally invasive autopsy in the evaluation of fetal malformations and stillbirths : A feasibility study
enthalten in:
Birth defects research
| 2024
von
Gupta, N.
|
Langeh, N.
|
Sharma, A.
| +8
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7
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
enthalten in:
American journal of human genetics
| 2024
von
Salpietro, V.
|
Maroofian, R.
|
Zaki, M.
| +164
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8
Mutation profile of Bardet-Biedl syndrome patients from India : Implicative role of multiallelic rare variants and oligogenic inheritance pattern
enthalten in:
Clinical genetics
| 2023
von
Gnanasekaran, H.
|
Chandrasekhar, S.
|
Kandeeban, S.
| +8
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9
Faces of Fibrodysplasia Ossificans Progressiva : Lessons from a Clinical Masquerader
enthalten in:
Indian journal of pediatrics
| 2023
von
Gupta, A.
|
Mishra, P.
|
Chowdhury, M.
| +4
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10
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome
enthalten in:
European journal of medical genetics
| 2023
von
Gupta, N.
|
Chakraborty, S.
|
Chowdhury, M.
| +5
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582
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Zeitschriftentitel
91
Indian journal of pediatrics
74
Indian pediatrics
23
Journal of child neurology
13
American journal of medical genetics. Part A
11
Human mutation
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Clinical dysmorphology
9
BMC medical genetics
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Pediatric neurology
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Prenatal diagnosis
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American journal of hematology
7
American journal of human genetics
7
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The Indian journal of medical research
6
American Journal of Medical Genetics Part C: Se...
6
BMC pediatrics
6
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India
16
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Randomized Controlled Trial
10
Down syndrome
10
Methyl-CpG-Binding Protein 2
10
Research Support, N.I.H., Extramural
9
Anticonvulsants
9
Children
9
Comparative Study
9
MECP2 protein, human
8
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8
Intellectual disability
7
Cystic fibrosis
7
Membrane Proteins
7
Vitamin D
6
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2020-
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2000-2009
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