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Saskin, Avi
11  results:
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1

Functional and phenotypic consequences of an unusual invers..:

Pelletier, Dylan ; Rath, Abhijit ; Sabbaghian, Nelly...
Familial Cancer.  23 (2023)  1 - p. 1-7 , 2023
Link: https://doi.org/10.1007/..
 
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2

Isolated bilateral congenital lacrimal gland agenesis—a cas..:

Alghazawi, Nebras ; Modabber, Milad ; Darwich, Rami...
Journal of American Association for Pediatric Ophthalmology and Strabismus.  , 2021
Link: https://doi.org/10.1016/..
 
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3

Biochemical analysis of patients with mutations in MTHFD1 a..:

Bidla, Gawa ; Watkins, David ; Chéry, Céline...
Molecular Genetics and Metabolism.  130 (2020)  3 - p. 179-182 , 2020
Link: https://doi.org/10.1016/..
 
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4

RARE-22. GERMLINE PATHOGENIC VARIANT c.1552G>A;p.E518K IN D..:

Chong, Anne-Sophie ; Nadaf, Javad ; Grau, Elia...
Neuro-Oncology.  22 (2020)  Supplement_3 - p. iii447-iii447 , 2020
Link: https://doi.org/10.1093/..
 
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5

Renal tubular dysgenesis and microcolon, a novel associatio..:

Saskin, Avi ; Alfares, Ahmed ; Bernard, Chantal...
European Journal of Medical Genetics.  62 (2019)  4 - p. 254-258 , 2019
Link: https://doi.org/10.1016/..
 
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6

PTPRD copy number variants and Ewing's sarcoma: Strengtheni..:

Saskin, Avi ; Seath, Kimberly ; Tihy, Frederique...
Cancer Genetics.  235-236 (2019)  - p. 28-30 , 2019
Link: https://doi.org/10.1016/..
 
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7

Glucocorticoid resistance syndrome caused by a novel NR3C1 ..:

Al Argan, Reem ; Saskin, Avi ; Yang, Ji Wei..
Endocrine Journal.  65 (2018)  11 - p. 1139-1146 , 2018
Link: https://doi.org/10.1507/..
 
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8

COL4A1/2CNVs and cerebral small vessel disease: Narrowing i..:

Saskin, Avi ; Sillon, Guillaume ; Palfreeman, Natalie.
Neurology.  90 (2018)  22 - p. 1026-1028 , 2018
Link: https://doi.org/10.1212/..
 
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9

Prevalence of four Mendelian disorders associated with auti..:

Saskin, Avi ; Fulginiti, Vanessa ; Birch, Ashley H.
Journal of Human Genetics.  62 (2017)  6 - p. 657-659 , 2017
Link: https://doi.org/10.1038/..
 
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10

A case of neuroblastoma in DICER1 syndrome: Chance finding ..:

Saskin, Avi ; de Kock, Leanne ; Sabbaghian, Nelly...
Pediatric Blood & Cancer.  65 (2017)  1 - p. , 2017
Link: https://doi.org/10.1002/..
 
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11

Germline and somatic SMARCA4 mutations characterize small c..:

Witkowski, Leora ; Carrot-Zhang, Jian ; Albrecht, Steffen...
Nature Genetics.  46 (2014)  5 - p. 438-443 , 2014
Link: https://doi.org/10.1038/..
 
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