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PubPharm (75)
1
Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)-A Case Series with Recurrent c.740_741del Variant
enthalten in:
Journal of pediatric genetics
| 2024
von
Nilay, M.
|
Rawool, A.
|
Mandal, K.
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2
Inborn Errors of Ketogenesis : Novel Variants, Clinical Presentation, and Follow-Up in a Series of Four Patients
enthalten in:
Journal of pediatric genetics
| 2024
von
Sait, H.
|
Srivastava, S.
|
Kumar, S.
| +7
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3
A novel in-frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation
enthalten in:
MedComm
| 2024
von
Banerjee, S.
|
Zhao, Q.
|
Wang, B.
| +21
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4
SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries
enthalten in:
Journal of clinical research in pediatric endocrinology
| 2024
von
Srivastava, P.
|
Tyagi, A.
|
Bamba, C.
| +8
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5
Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene
enthalten in:
Pediatric nephrology (Berlin, Germany)
| 2024
von
Deepthi, B.
|
Sivakumar, R.
|
Krishnasamy, S.
| +3
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6
High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes
enthalten in:
The Journal of clinical endocrinology and metabolism
| 2024
von
Menon, J.
|
Singh, P.
|
Archana, A.
| +14
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7
Clinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2 : a nationwide experience
enthalten in:
Pediatric nephrology (Berlin, Germany)
| 2024
von
Krishnasamy, S.
|
Deepthi, B.
|
Kamath, N.
| +10
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8
Neurofibromatosis type 1 : Clinical characteristics and mutation spectrum in a North Indian cohort
enthalten in:
Heliyon
| 2024
von
Srivastava, P.
|
Gupta, S.
|
Bamba, C.
| +5
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9
Hydrometrocolpos : antenatal diagnosis and postnatal management
enthalten in:
BMJ case reports
| 2023
von
Singh, A.
|
Mandelia, A.
|
Naranje, K.
| +1
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10
MPV17 mutation-related mitochondrial DNA depletion syndrome : A case series in infants
enthalten in:
Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology
| 2023
von
Samanta, A.
|
Srivastava, A.
|
Mandal, K.
| +2
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Thema: Journal Article
Medienart
75
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71
E-Artikel
71
E-Ressourcen
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Zeitschriftentitel
9
Clinical dysmorphology
7
Indian pediatrics
6
American journal of medical genetics. Part A
5
Indian journal of pediatrics
4
European journal of medical genetics
4
Journal of genetics
3
Journal of pediatric genetics
3
NeoReviews
3
Pediatric nephrology (Berlin, Germany)
2
Human mutation
2
Indian pacing and electrophysiology journal
2
Journal of clinical research in pediatric endoc...
1
Asian journal of transfusion science
1
BMJ case reports
1
Biomarkers in medicine
1
Fetal and pediatric pathology
1
Frontiers in genetics
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Heliyon
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Indian journal of gastroenterology : official j...
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International journal of hematology-oncology an...
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Thema
Journal Article
22
Case Reports
13
Research Support, Non-U.S. Gov't
6
Review
4
India
4
Multicenter Study
3
Sanger sequencing
2
CTSK protein, human
2
Cathepsin K
2
Congenital nephrotic syndrome
2
EC 3.1.4.12
2
EC 3.1.6.13
2
EC 3.4.22.38
2
Genetic Markers
2
Iduronate Sulfatase
2
Indian population
2
Lysosomal storage disorder
2
MECP2 protein, human
2
Meta-Analysis
2
Methyl-CpG-Binding Protein 2
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Erscheinungszeitraum
40
2020-
30
2010-2019
5
2000-2009
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75
Englisch
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