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Bekheirnia, Mir Reza
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1

Bi-allelic variants in CELSR3 are implicated in central ner..:

Stegmann, Jil D. ; Kalanithy, Jeshurun C. ; Dworschak, Gabriel C....
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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A syndromic neurodevelopmental disorder caused by rare vari..:

Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling...
The American Journal of Human Genetics.  111 (2024)  6 - p. 1239 , 2024
Link: https://doi.org/10.1016/..
 
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3

A syndromic neurodevelopmental disorder caused by rare vari..:

Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling...
The American Journal of Human Genetics.  111 (2024)  1 - p. 96-118 , 2024
Link: https://doi.org/10.1016/..
 
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4

A syndromic neurodevelopmental disorder caused by rare vari..:

Paul, Maimuna S. ; Michener, Sydney L. ; Pan, Hongling...
The American Journal of Human Genetics.  111 (2024)  4 - p. 805 , 2024
Link: https://doi.org/10.1016/..
 
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5

Bi-allelic variants in CEP295 cause Seckel-like syndrome pr..:

Li, Niu ; Xu, Yufei ; Chen, Hongzhu...
eBioMedicine.  99 (2024)  - p. 104940 , 2024
Link: https://doi.org/10.1016/..
 
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P050: Biallelic variants in POLG2 provides a rare molecular..:

Rossi, Vittoria ; Brooks, Dan ; Dai, Hongzheng...
Genetics in Medicine Open.  2 (2024)  - p. 100927 , 2024
Link: https://doi.org/10.1016/..
 
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7

Expanded clinical phenotype and untargeted metabolomics ana..:

Walimbe, Ameya S. ; Machol, Keren ; Kralik, Stephen F....
BMC Neurology.  24 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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8

Disease modeling of ADAMTS9-related nephropathy using kidne..:

Yu, Seyoung ; Choi, Yo Jun ; Rim, John Hoon...
Frontiers in Medicine.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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9

De novo variants in CNOT9 cause a neurodevelopmental disord..:

von Wintzingerode, Lydia ; Ben-Zeev, Bruria ; Cesario, Claudia...
Genetics in Medicine.  25 (2023)  7 - p. 100859 , 2023
Link: https://doi.org/10.1016/..
 
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10

P284: Compound heterozygosity for loss-of-function variants..:

Rossi, Vittoria ; Luo, Xi ; Nunez, Kristin Cardiel...
Genetics in Medicine Open.  1 (2023)  1 - p. 100312 , 2023
Link: https://doi.org/10.1016/..
 
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11

Genetic diagnosis and renal biopsy findings in the setting ..:

Ben Moshe, Yishay ; Bekheirnia, Nasim ; Smith, Richard J. H....
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  190 (2022)  3 - p. 302-308 , 2022
Link: https://doi.org/10.1002/..
 
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12

Gain and loss of TASK3 channel function and its regulation ..:

Cousin, Margot A. ; Veale, Emma L. ; Dsouza, Nikita R....
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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13

Lupus Nephritis, Autoantibody Production and Kidney Outcome..:

Wenderfer, Scott E. ; Orjuela, Alvaro ; Bekheirnia, Mir Reza...
Pediatric Reports.  14 (2022)  2 - p. 220-232 , 2022
Link: https://doi.org/10.3390/..
 
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14

Variants in genes coding for collagen type IV α-chains are ..:

Alge, Joseph L. ; Bekheirnia, Nasim ; Willcockson, Alexandra R....
Pediatric Nephrology.  38 (2022)  3 - p. 687-695 , 2022
Link: https://doi.org/10.1007/..
 
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15

Introduction to special issue for kidney genetics:

Bekheirnia, Mir Reza
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  190 (2022)  3 - p. 261-261 , 2022
Link: https://doi.org/10.1002/..
 
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