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Marwaha, Ashish
96  Ergebnisse:
Personensuche X
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1

68 LRBA dysfunction: a new diagnostic entity caused by bial..:

Chiang, Samuel ; Murguia-Favela, Luis ; Wright, Nicola...
Clinical Immunology.  262 (2024)  - p. 110010 , 2024
Link: https://doi.org/10.1016/..
 
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The spectrum of heart defects in theTRAF7-related multiple ..:

Pisan, Elise ; De Luca, Chiara ; Brancati, Francesco...
Proceedings of the National Academy of Sciences.  121 (2024)  12 - p. , 2024
Link: https://doi.org/10.1073/..
 
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3

Association between cystic fibrosis transmembrane regulator..:

Bélanger, Noémie ; Bonhoure, Anne ; Kherani, Tamizan...
Genetics and Molecular Biology.  47 (2024)  1 - p. , 2024
Link: https://doi.org/10.1590/..
 
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106 Outcomes Following Hematopoietic Cell Transplant for CD..:

Kalashnikova, Tatiana ; Cuvelier, Geoff ; Logan, Brent...
Clinical Immunology.  262 (2024)  - p. 110048 , 2024
Link: https://doi.org/10.1016/..
 
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5

P429: Epidemiological assessment of autosomal recessive fou..:

Prince, Bradley ; Low, Tisiana ; Agatep, Ronald...
Genetics in Medicine Open.  2 (2024)  - p. 101323 , 2024
Link: https://doi.org/10.1016/..
 
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6

The utility of DNA methylation signatures in directing geno..:

Marwaha, Ashish ; Costain, Gregory ; Cytrynbaum, Cheryl...
American Journal of Medical Genetics Part A.  188 (2022)  5 - p. 1368-1375 , 2022
Link: https://doi.org/10.1002/..
 
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7

Expansion of the neurodevelopmental phenotypic spectrum of ..:

Yang, Xiao‐Ru ; Marwaha, Ashish
American Journal of Medical Genetics Part A.  188 (2022)  6 - p. 1928-1929 , 2022
Link: https://doi.org/10.1002/..
 
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8

Biallelic loss-of-function variants in RABGAP1 cause a nove..:

Oh, Rachel Youjin ; Deshwar, Ashish R. ; Marwaha, Ashish...
Genetics in Medicine.  24 (2022)  11 - p. 2399-2407 , 2022
Link: https://doi.org/10.1016/..
 
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9

Progressive decline of T and B cell numbers and function in..:

Kashani, Paria ; Marwaha, Ashish ; Feanny, Stephen...
Immunologic Research.  69 (2021)  1 - p. 53-58 , 2021
Link: https://doi.org/10.1007/..
 
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10

The point-of-care use of a facial phenotyping tool in the g..:

Marwaha, Ashish ; Chitayat, David ; Mendoza, Roberto..
Molecular Genetics and Metabolism.  132 (2021)  - p. S103 , 2021
Link: https://doi.org/10.1016/..
 
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11

Phase II multicentre, double-blind, randomised trial of ust..:

Gregory, John W ; Carter, Kymberley ; Cheung, Wai Yee...
BMJ Open.  11 (2021)  10 - p. e049595 , 2021
Link: https://doi.org/10.1136/..
 
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12

The point‐of‐care use of a facial phenotyping tool in the g..:

Marwaha, Ashish ; Chitayat, David ; Meyn, M. Stephen..
American Journal of Medical Genetics Part A.  185 (2021)  4 - p. 1151-1158 , 2021
Link: https://doi.org/10.1002/..
 
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13

Two cases of carbonic anhydrase VA deficiency—An ultrarare ..:

Marwaha, Ashish ; Ibrahim, Judy ; Rice, Taylor...
JIMD Reports.  57 (2020)  1 - p. 9-14 , 2020
Link: https://doi.org/10.1002/..
 
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14

Congenital hypothyroidism, cardiac defects, and pancreatic ..:

Raghuram, Nikhil ; Marwaha, Ashish ; Greer, Mary‐Louise C...
American Journal of Medical Genetics Part A.  182 (2020)  6 - p. 1496-1499 , 2020
Link: https://doi.org/10.1002/..
 
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15

Epidermal growth factor receptor deficiency: Expanding the ..:

Earl, Brian R. ; Szybowska, Marta ; Marwaha, Ashish...
The Journal of Dermatology.  47 (2020)  8 - p. 898-902 , 2020
Link: https://doi.org/10.1111/..
 
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