Suchergebnisse - "Puri, Ratna D."

PubPharm (61)

1

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

enthalten in: The New England journal of medicine | 2021

von Chai, G. | Szenker-Ravi, E. | Chung, C. | +27

2

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians

enthalten in: Human mutation | 2021

von Kausthubham, N. | Shukla, A. | Gupta, N. | +13

3

Lysosomal storage disorders : Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease

enthalten in: Clinical biochemistry | 2021

von Thomas, D. | Sharma, S. | Puri, R. | +2

4

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

enthalten in: Human mutation | 2021

von Kausthubham, N. | Shukla, A. | Gupta, N. | +13

5

Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC) : A not so common hereditary cancer syndrome in Indian population

enthalten in: Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology | 2020

von Bhai, P. | Kulshrestha, S. | Puri, R. | +3

6

Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population

enthalten in: Indian journal of gastroenterology | 2020

von Bhai, P. | Kulshrestha, S. | Puri, R. | +3

7

Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population

enthalten in: Indian journal of gastroenterology | 2020

von Bhai, P. | Kulshrestha, S. | Puri, R. | +3

8

Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome : First patient from India

enthalten in: American journal of medical genetics. Part A | 2020

von Arora, V. | Puri, R. | Bijarnia-Mahay, S. | +1

9

Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease

enthalten in: European journal of medical genetics | 2020

von Arora, V. | Bijarnia-Mahay, S. | Tiwari, V. | +5

10

A call for global action for rare diseases in Africa

enthalten in: Nature genetics | 2020

von Baynam, G. | Groft, S. | van der Westhuizen, F. | +47

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