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Assoum, Mirna
11
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1
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/..
?
2
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/..
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3
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/..
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4
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/..
?
5
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/..
?
6
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/..
?
7
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/..
?
8
WDR73Mutations Cause Infantile Neurodegeneration and Variab..:
Vodopiutz, Julia
;
Seidl, Rainer
;
Prayer, Daniela
...
Human Mutation. 36 (2015) 11 - p. 1021-1028 , 2015
Link:
https://doi.org/10.1002/..
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9
PMPCAmutations cause abnormal mitochondrial protein process..:
Jobling, Rebekah K.
;
Assoum, Mirna
;
Gakh, Oleksandr
...
Brain. 138 (2015) 6 - p. 1505-1517 , 2015
Link:
https://doi.org/10.1093/..
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10
Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous..:
Vermeer, Sascha
;
Hoischen, Alexander
;
Meijer, Rowdy P.P.
...
The American Journal of Human Genetics. 87 (2010) 6 - p. 813-819 , 2010
Link:
https://doi.org/10.1016/..
?
11
Rundataxin, a novel protein with RUN and diacylglycerol bin..:
Assoum, Mirna
;
Salih, Mustafa A.
;
Drouot, Nathalie
...
Brain. 133 (2010) 8 - p. 2439-2447 , 2010
Link:
https://doi.org/10.1093/..
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