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Saskin, Avi
11
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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/..
?
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/..
?
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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