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Harlalka, Gaurav V.
58  results:
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1

Overlapping neurological phenotypes in two extended consang..:

Khan, Shazia ; Umair, Muhammad ; Abbas, Safdar...
The Journal of Gene Medicine.  25 (2023)  10 - p. , 2023
Link: https://doi.org/10.1002/..
 
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2

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gen..:

Lin, Siying ; Sanchez-Bretaño, Aida ; Leslie, Joseph S....
npj Genomic Medicine.  7 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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3

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPo..:

Rawlins, Lettie E. ; Almousa, Hashem ; Khan, Shazia...
PLOS Genetics.  18 (2022)  3 - p. e1010114 , 2022
Link: https://doi.org/10.1371/..
 
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4

A recurrent rare intronic variant in CAPN3 alters mRNA spli..:

Khan, Kamal ; Mehmood, Sarmad ; Liu, Chunyu...
American Journal of Medical Genetics Part A.  188 (2021)  2 - p. 498-508 , 2021
Link: https://doi.org/10.1002/..
 
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5

Variants inNIPAL4andALOXE3cause autosomal recessive congeni..:

Akbar, Abida ; Bint‐e‐Farrakh, Muneeba ; Crosby, Andrew H...
Congenital Anomalies.  , 2020
Link: https://doi.org/10.1111/..
 
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6

BBS5 and INPP5E mutations associated with ciliopathy disord..:

Khan, Shazia ; Lin, Siying ; Harlalka, Gaurav V....
Annals of Human Genetics.  83 (2019)  6 - p. 477-482 , 2019
Link: https://doi.org/10.1111/..
 
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7

MNS1 variant associated with situs inversus and male infert..:

Leslie, Joseph S. ; Rawlins, Lettie E. ; Chioza, Barry A....
European Journal of Human Genetics.  28 (2019)  1 - p. 50-55 , 2019
Link: https://doi.org/10.1038/..
 
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8

In Silico analysis of SIGMAR1 gene causing distal hereditar..:

Mehmood, Sarmad ; Harlalka, Gaurav V. ; Dad, Rubina...
Gene Reports.  16 (2019)  - p. 100445 , 2019
Link: https://doi.org/10.1016/..
 
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9

An Amish founder variant consolidates disruption of CEP55 a..:

Rawlins, Lettie E. ; Jones, Hannah ; Wenger, Olivia...
European Journal of Human Genetics.  27 (2019)  4 - p. 657-662 , 2019
Link: https://doi.org/10.1038/..
 
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10

Homozygous variants in the HEXB and MBOAT7 genes underlie n..:

Khan, Shazia ; Rawlins, Lettie E. ; Harlalka, Gaurav V....
BMC Medical Genetics.  20 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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11

Novel nonsense variants in SLURP1 and DSG1 cause palmoplant..:

Akbar, Abida ; Prince, Claire ; Payne, Chloe...
BMC Medical Genetics.  20 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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12

Delineating the expanding phenotype associated with SCAPER ..:

Fasham, James ; Arno, Gavin ; Lin, Siying...
American Journal of Medical Genetics Part A.  179 (2019)  8 - p. 1665-1671 , 2019
Link: https://doi.org/10.1002/..
 
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13

Tyrosinase (TYR) gene sequencing and literature review reve..:

Shakil, Muhammad ; Harlalka, Gaurav V. ; Ali, Shamshad...
Eye.  33 (2019)  8 - p. 1339-1346 , 2019
Link: https://doi.org/10.1038/..
 
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14

Mutations in TYR and OCA2 associated with oculocutaneous al..:

Arshad, Muhammad Waqar ; Harlalka, Gaurav V. ; Lin, Siying...
Meta Gene.  17 (2018)  - p. 48-55 , 2018
Link: https://doi.org/10.1016/..
 
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15

Novel mutations in ALDH1A3 associated with autosomal recess..:

Lin, Siying ; Harlalka, Gaurav V. ; Hameed, Abdul...
BMC Medical Genetics.  19 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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