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PubPharm (68)
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
Resolving fetal hydrops - A rare entity
enthalten in:
European journal of medical genetics
| 2023
von
Saxena, D.
|
Tiwari, A.
|
Prasad, R.
| +1
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3
Red cell alloimmunization and associated risk factors in multiply transfused thalassemia patients : A prospective cohort study conducted at a tertiary care center in Northern India
enthalten in:
Asian journal of transfusion science
| 2023
von
Yadav, B.
|
Chaudhary, R.
|
Elhence, P.
| +4
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4
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data
enthalten in:
Prenatal diagnosis
| 2023
von
Saxena, D.
|
Srivastava, S.
|
Maurya, R.
| +3
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5
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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6
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data
enthalten in:
Prenatal Diagnosis
| 2023
von
Saxena, D.
|
Srivastava, S.
|
Maurya, R.
| +3
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7
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally : Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance
enthalten in:
Fetal and pediatric pathology
| 2022
von
Srivastava, S.
|
Manisha, R.
|
Dwivedi, A.
| +4
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8
Management of pregnant female with Haemophilia-A : A case report
enthalten in:
Journal of family medicine and primary care
| 2022
von
Lata, I.
|
Gupta, A.
|
Saxena, D.
| +2
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9
Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting
enthalten in:
The Egyptian journal of medical human genetics
| 2022
von
Dwivedi, A.
|
Moirangthem, A.
|
Pandey, H.
| +15
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10
Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting
enthalten in:
The Egyptian journal of medical human genetics
| 2022
von
Dwivedi, A.
|
Moirangthem, A.
|
Pandey, H.
| +15
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Indian journal of dermatology
6
Indian journal of pediatrics
5
European journal of medical genetics
5
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4
American Journal of Medical Genetics Part C: Se...
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Molecular diversity
4
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American journal of medical genetics. Part A
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Indian pediatrics
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Archives of disease in childhood / Fetal & neon...
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Archives of disease in childhood. Fetal and neo...
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Asian journal of transfusion science
1
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1
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1
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Thema
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9
Research Support, Non-U.S. Gov't
8
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5
Atopic dermatitis
4
Benzimidazoles
4
Benzothiazoles
4
Benzoxazoles
4
Deferiprone
4
Research Support, N.I.H., Extramural
3
Anti-HIV Agents
3
Ciclopirox
3
Oxidative coupling reactions
3
Potassium persulfate–CuSO
3
Quinazolin-4(3H)-ones
3
Review
2
2BTY8KH53L
2
Biomedical Innovation
2
CTSK protein, human
2
Cathepsin K
2
Copy number variation
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Erscheinungszeitraum
66
2000-
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1900-1999
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