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1.
Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia.
Prenat Diagn
; 42(13): 1627-1635, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36403094
2.
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
Hum Mol Genet
; 22(12): 2387-99, 2013 Jun 15.
Article
in English
| MEDLINE | ID: mdl-23427148
3.
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.
Hum Mol Genet
; 22(13): 2652-61, 2013 Jul 01.
Article
in English
| MEDLINE | ID: mdl-23466526
4.
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Hum Mutat
; 33(1): 64-72, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22045651
5.
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.
Sci Rep
; 12(1): 14302, 2022 08 22.
Article
in English
| MEDLINE | ID: mdl-35995809
6.
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
Mol Genet Genomic Med
; 9(11): e1645, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34582124
7.
CSN5 binds to misfolded CFTR and promotes its degradation.
Biochim Biophys Acta
; 1783(6): 1189-99, 2008 Jun.
Article
in English
| MEDLINE | ID: mdl-18267124
8.
First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.
Eur J Med Genet
; 61(6): 322-328, 2018 Jun.
Article
in English
| MEDLINE | ID: mdl-29366875
9.
Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly.
Case Rep Genet
; 2017: 7803136, 2017.
Article
in English
| MEDLINE | ID: mdl-28465847
10.
Induced pluripotent stem cell generation from a man carrying a complex chromosomal rearrangement as a genetic model for infertility studies.
Sci Rep
; 7: 39760, 2017 01 03.
Article
in English
| MEDLINE | ID: mdl-28045072
11.
In Vitro Gamete Differentiation from Pluripotent Stem Cells as a Promising Therapy for Infertility.
Stem Cells Dev
; 25(7): 509-21, 2016 Apr 01.
Article
in English
| MEDLINE | ID: mdl-26873432
12.
COMMD1 modulates noxious inflammation in cystic fibrosis.
Int J Biochem Cell Biol
; 45(11): 2402-9, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-23892095
13.
COMMD1-mediated ubiquitination regulates CFTR trafficking.
PLoS One
; 6(3): e18334, 2011 Mar 31.
Article
in English
| MEDLINE | ID: mdl-21483833
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