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1.
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects.
Am J Med Genet A
; 188(5): 1384-1395, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35025139
2.
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Am J Hum Genet
; 96(3): 462-73, 2015 Mar 05.
Article
in English
| MEDLINE | ID: mdl-25683120
3.
Rare variants in NR2F2 cause congenital heart defects in humans.
Am J Hum Genet
; 94(4): 574-85, 2014 04 03.
Article
in English
| MEDLINE | ID: mdl-24702954
4.
Chromosome 5q33 deletions associated with congenital heart defects.
Am J Med Genet A
; 170(12): 3338-3342, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27589475
5.
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.
Am J Hum Genet
; 98(3): 592, 2016 Mar 03.
Article
in English
| MEDLINE | ID: mdl-28863274
6.
OTX2 mutations contribute to the otocephaly-dysgnathia complex.
J Med Genet
; 49(6): 373-9, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22577225
7.
Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome?
Clin Dysmorphol
; 17(2): 91-93, 2008 Apr.
Article
in English
| MEDLINE | ID: mdl-18388777
8.
Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA.
Circ Cardiovasc Genet
; 10(6)2017 Dec.
Article
in English
| MEDLINE | ID: mdl-29237676
9.
Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.
Eur J Med Genet
; 56(1): 1-6, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-23059468
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