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Dmitriy Niyazov
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1

P245: Oldest reported patients with RAB18 deficiency due to..:

Niyazov, Dmitriy ; Juusola, Jane
Genetics in Medicine Open.  2 (2024)  - p. 101141 , 2024
Link: https://doi.org/10.1016/..
 
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2

Abnormal Bone Collagen Cross‐Linking in Osteogenesis Imperf..:

Gistelinck, Charlotte ; Weis, MaryAnn ; Rai, Jyoti...
JBMR Plus.  5 (2021)  3 - p. , 2021
Link: https://doi.org/10.1002/..
 
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3

Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy..:

Rech, Megan E. ; McCarthy, John M. ; Chen, Chun‐An...
American Journal of Medical Genetics Part A.  182 (2020)  6 - p. 1426-1437 , 2020
Link: https://doi.org/10.1002/..
 
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4

De novo heterozygous missense and loss‐of‐function variants..:

Chilton, Ilana ; Okur, Volkan ; Vitiello, Giuseppina...
American Journal of Medical Genetics Part A.  182 (2020)  5 - p. 962-973 , 2020
Link: https://doi.org/10.1002/..
 
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5

Novel NUDT2 variant causes intellectual disability and poly..:

Diaz, Frank ; Khosa, Shaweta ; Niyazov, Dmitriy...
Annals of Clinical and Translational Neurology.  7 (2020)  11 - p. 2320-2325 , 2020
Link: https://doi.org/10.1002/..
 
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6

Pathogenic WDFY3 variants cause neurodevelopmental disorder..:

Le Duc, Diana ; Giulivi, Cecilia ; Hiatt, Susan M...
Brain.  142 (2019)  9 - p. 2617-2630 , 2019
Link: https://doi.org/10.1093/..
 
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7

Biallelic variants in AGMO with diminished enzyme activity ..:

Okur, Volkan ; Watschinger, Katrin ; Niyazov, Dmitriy...
Human Genetics.  138 (2019)  11-12 - p. 1259-1266 , 2019
Link: https://doi.org/10.1007/..
 
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8

TANGO2: expanding the clinical phenotype and spectrum of pa..:

Dines, Jennifer N. ; Golden-Grant, Katie ; LaCroix, Amy...
Genetics in Medicine.  21 (2019)  3 - p. 601-607 , 2019
Link: https://doi.org/10.1038/..
 
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9

Phenotype and mutation expansion of the PTPN23 associated d..:

Regeneron Genetics Center ; Bend, Renee ; Cohen, Lior...
European Journal of Human Genetics.  28 (2019)  1 - p. 76-87 , 2019
Link: https://doi.org/10.1038/..
 
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10

Correction: TANGO2: expanding the clinical phenotype and sp..:

Dines, Jennifer N. ; Golden-Grant, Katie ; LaCroix, Amy...
Genetics in Medicine.  21 (2019)  8 - p. 1899 , 2019
Link: https://doi.org/10.1038/..
 
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11

An immune tolerance approach using methotrexate in the naïv..:

Desai, Ankit K. ; Kazi, Zoheb B. ; Erwin, Angelika...
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S38 , 2018
Link: https://doi.org/10.1016/..
 
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12

Novel Variants in Individuals with RYR1-Related Congenital ..:

Todd, Joshua J. ; Razaqyar, Muslima S. ; Witherspoon, Jessica W....
Frontiers in Neurology.  9 (2018)  - p. , 2018
Link: https://doi.org/10.3389/..
 
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13

Correction: Corrigendum: The expanding clinical phenotype o..:

Chen, Chun-An ; Bosch, Daniëlle G M ; Cho ScM, Megan T...
Genetics in Medicine.  19 (2017)  8 - p. 962 , 2017
Link: https://doi.org/10.1038/..
 
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14

Solid organ transplantation in primary mitochondrial diseas..:

Parikh, Sumit ; Karaa, Amel ; Goldstein, Amy...
Molecular Genetics and Metabolism.  118 (2016)  3 - p. 178-184 , 2016
Link: https://doi.org/10.1016/..
 
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15

De novo mutations in CSNK2A1 are associated with neurodevel..:

Okur, Volkan ; Cho, Megan T. ; Henderson, Lindsay...
Human Genetics.  135 (2016)  7 - p. 699-705 , 2016
Link: https://doi.org/10.1007/..
 
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