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Chaudhry, Chakshu
12  Ergebnisse:
Artikel (Online) X
Personensuche X
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1

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

Singh, Swati ; Nampoothiri, Sheela ; Narayanan, Dhanya Lakshmi...
European Journal of Human Genetics.  32 (2024)  8 - p. 1022-1026 , 2024
Link: https://doi.org/10.1038/..
 
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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/..
 
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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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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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/..
 
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11

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/..
 
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12

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/..
 
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