I agree that this site is using cookies. You can find further informations here.
X
Assoum, Mirna
39  results:
Search for persons X
?
1

The clinical utility of rapid exome sequencing in a consang..:

Dorota Monies ; Ewa Goljan ; Rapid Exome Consortium...
https://doi.org/10.1186/s13073-023-01192-5.  , 2023
Link: https://doi.org/10.1186/..
 
?
2

The clinical utility of rapid exome sequencing in a consang..:

Monies, Dorota ; Goljan, Ewa ; Assoum, Mirna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10283251/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
?
3

Toward clinical and molecular dissection of frontonasal dys..:

Lehalle, Daphné ; Bruel, Ange‐Line ; Vitobello, Antonio...
American Journal of Medical Genetics Part A.  188 (2022)  7 - p. 2036-2047 , 2022
Link: https://doi.org/10.1002/..
 
?
4

Prenatal exome sequencing and chromosomal microarray analys..:

Al-Hamed, Mohamed H. ; Kurdi, Wesam ; Khan, Rubina...
Human Genetics.  141 (2021)  1 - p. 101-126 , 2021
Link: https://doi.org/10.1007/..
 
?
5

A genomics approach to male infertility:

Alhathal, Naif ; Maddirevula, Sateesh ; Coskun, Serdar...
Genetics in Medicine.  22 (2020)  12 - p. 1967-1975 , 2020
Link: https://doi.org/10.1038/..
 
?
6

Novel KIAA1033/WASHC4 mutations in three patients with synd..:

Assoum, Mirna ; Bruel, Ange‐Line ; Crenshaw, Melissa L....
American Journal of Medical Genetics Part A.  182 (2020)  4 - p. 792-797 , 2020
Link: https://doi.org/10.1002/..
 
?
7

Increased diagnostic and new genes identification outcome u..:

Orphanomix Physician's Group ; Bruel, Ange-Line ; Nambot, Sophie...
European Journal of Human Genetics.  27 (2019)  10 - p. 1519-1531 , 2019
Link: https://doi.org/10.1038/..
 
?
8

Author Correction: CHD3 helicase domain mutations cause a n..:

Snijders Blok, Lot ; Rousseau, Justine ; Twist, Joanna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
?
9

Author Correction: CHD3 helicase domain mutations cause a n..:

Lot Snijders Blok ; Justine Rousseau ; Joanna Twist...
https://doi.org/10.1038/s41467-019-08800-2.  , 2019
Link: https://doi.org/10.1038/..
 
?
10

Author Correction: CHD3 helicase domain mutations cause a n..:

Lot Snijders Blok ; Justine Rousseau ; Joanna Twist...
https://doi.org/10.1038/s41467-019-10161-9.  , 2019
Link: https://doi.org/10.1038/..
 
?
11

Increased diagnostic and new genes identification outcome u..:

Bruel, Ange-Line ; Nambot, Sophie ; Quéré, Virginie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777617/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
?
12

Lessons Learned from Large-Scale, First-Tier Clinical Exome..:

Monies, Dorota ; Abouelhoda, Mohammed ; Assoum, Mirna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817532/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
?
13

Author Correction: CHD3 helicase domain mutations cause a n..:

Blok, Lot Snijders ; Rousseau, Justine ; Twist, Joanna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
?
14

Further delineation of the clinical spectrum of de novo TRI..:

Assoum, Mirna ; Lines, Matthew A. ; Elpeleg, Orly...
American Journal of Medical Genetics Part A.  176 (2018)  11 - p. 2470-2478 , 2018
Link: https://doi.org/10.1002/..
 
?
15

The oculoauriculofrontonasal syndrome: Further clinical cha..:

Lehalle, Daphné ; Altunoglu, Umut ; Bruel, Ange‐Line...
American Journal of Medical Genetics Part A.  176 (2018)  12 - p. 2740-2750 , 2018
Link: https://doi.org/10.1002/..
 
1-15