E-LIB Suche - Ergebnisse für: Chaudhry, Chakshu

1

Biallelic loss of function variants in FUZ result in an oro..:

Singh, Swati ; Nampoothiri, Sheela ; Narayanan, Dhanya Lakshmi...
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

2

Identification of genetic alterations in couples and their ..:

Srivastava, Priyanka ; Bamba, Chitra ; Chopra, Seema...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

Clinical and Immunological Features, Genetic Variants, and ..:

Banday, Aaqib Zaffar ; Nisar, Rahila ; Patra, Pratap Kumar...
Journal of Clinical Immunology. 44 (2023) 1 - p. , 2023

Link: https://doi.org/10.1007/..

4

X‐linked frontometaphyseal dysplasia with severe scoliosis ..:

Gangadaran, Prabakaran ; Chaudhry, Chakshu ; Panigrahi, Inusha..
American Journal of Medical Genetics Part A. 185 (2021) 5 - p. 1550-1553 , 2021

Link: https://doi.org/10.1002/..

5

Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis..:

Kaur, Parminder ; Panigrahi, Inusha ; Kaur, Harleen...
Case Reports in Genetics. 2021 (2021) - p. 1-6 , 2021

Link: https://doi.org/10.1155/..

6

Ayme gripp syndrome in an Indian patient:

Chaudhry, Chakshu ; Kaur, Parminder ; Srivastava, Priyanka.
American Journal of Medical Genetics Part A. 185 (2021) 4 - p. 1312-1316 , 2021

Link: https://doi.org/10.1002/..

7

Novel variation in ANTXR2 gene causing hyaline fibromatosis..:

Chaudhry, Chakshu ; Kaur, Parminder ; Srivastava, Priyanka..
Congenital Anomalies. 61 (2021) 4 - p. 140-141 , 2021

Link: https://doi.org/10.1111/..

8

Gas Chromatography Mass Spectrometry Aided Diagnosis of Glu..:

Kaur, Parminder ; Chaudhry, Chakshu ; Panigrahi, Inusha..
Laboratory Medicine. 53 (2021) 3 - p. e59-e61 , 2021

Link: https://doi.org/10.1093/..

9

Achondroplasia—First Report from India of a Rare FGFR3 Gene..:

Chaudhry, Chakshu ; G, Prabakaran ; Srivastava, Priyanka...
Laboratory Medicine. 52 (2021) 5 - p. 499-502 , 2021

Link: https://doi.org/10.1093/..

10

Sotos syndrome in two children from India:

Panigrahi, Inusha ; Chaudhry, Chakshu
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2181-2183 , 2020

Link: https://doi.org/10.1002/..

11

Wolf–Hirschhorn syndrome: A case series from India:

Chaudhry, Chakshu ; Kaur, Anit ; Panigrahi, Inusha.
American Journal of Medical Genetics Part A. 182 (2020) 12 - p. 3048-3051 , 2020

Link: https://doi.org/10.1002/..

12

Indian child with novel variant inOFD1gene:

Panigrahi, Inusha ; Ahuja, Chirag ; Chaudhry, Chakshu
American Journal of Medical Genetics Part A. 182 (2020) 10 - p. 2236-2238 , 2020

Link: https://doi.org/10.1002/..

13

Identification of genetic alterations in couples and their ..:

Srivastava, Priyanka ; Bamba, Chitra ; Chopra, Seema...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10227573/. , 2023

Link: http://www.ncbi.nlm.nih...

14

Fluctuating weakness: clue in the eyes!:

Kaur, Amrit ; Chaudhry, Chakshu ; Mehta, Aditi.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7772324/. , 2020

Link: http://www.ncbi.nlm.nih...

15

Prevalence of hypoglycemia in diarrheal dehydration at hosp..:

Ninama, Rameshwar ; Chaudhry, Chakshu ; Suman, Rameshwar Lal...
https://www.ijpediatrics.com/index.php/ijcp/article/view/1538/1186. , 2018

Link: https://www.ijpediatrics..