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PubPharm (157)
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
Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene
enthalten in:
Pediatric nephrology
| 2023
von
Deepthi, B.
|
Sivakumar, R.
|
Krishnasamy, S.
| +3
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Indian journal of pediatrics
20
Indian pediatrics
15
Clinical dysmorphology
11
Journal of genetics
7
American journal of medical genetics. Part A
4
Annals of hematology
4
European journal of medical genetics
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Journal of clinical immunology
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American Journal of Medical Genetics Part C: Se...
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Journal of pediatric genetics
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Pediatric nephrology (Berlin, Germany)
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World journal of surgery
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Indian journal of gastroenterology
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Journal of pediatric neurosciences
2
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7
Next-generation sequencing
6
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6
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4
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4
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4
Cholestasis
4
Fatty liver
4
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4
Hypoketotic hypoglycemia
4
Infantile liver failure
4
Liver transplantation
4
Lysosomal storage disorder
4
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4
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2020-
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2010-2019
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2000-2009
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