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1.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33106617
2.
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Am J Hum Genet
; 101(6): 995-1005, 2017 Dec 07.
Article
in English
| MEDLINE | ID: mdl-29198722
3.
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Genet Med
; 20(11): 1430-1437, 2018 11.
Article
in English
| MEDLINE | ID: mdl-29595812
4.
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Prenat Diagn
; 38(1): 33-43, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29096039
5.
SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.
Clin Endocrinol (Oxf)
; 84(5): 715-9, 2016 May.
Article
in English
| MEDLINE | ID: mdl-26708403
6.
Clinical and genetic aspects of KBG syndrome.
Am J Med Genet A
; 170(11): 2835-2846, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27667800
7.
Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.
Am J Med Genet A
; 164A(2): 500-4, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24311450
8.
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.
J Med Genet
; 49(1): 21-6, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22167768
9.
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.
bioRxiv
; 2023 Aug 09.
Article
in English
| MEDLINE | ID: mdl-37609196
10.
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Nat Commun
; 14(1): 853, 2023 02 15.
Article
in English
| MEDLINE | ID: mdl-36792598
11.
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
Am J Med Genet A
; 158A(2): 391-9, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22190277
12.
De Barsy syndrome: a review of the phenotype.
Clin Dysmorphol
; 17(2): 99-107, 2008 Apr.
Article
in English
| MEDLINE | ID: mdl-18388779
13.
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Eur J Hum Genet
; 26(1): 64-74, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29180823
14.
An exome sequencing strategy to diagnose lethal autosomal recessive disorders.
Eur J Hum Genet
; 23(3): 401-4, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-24961629
15.
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.
J Mol Med (Berl)
; 93(7): 773-82, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25686753
16.
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.
Nat Commun
; 6: 8086, 2015 Sep 01.
Article
in English
| MEDLINE | ID: mdl-26323243
17.
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.
Eur J Hum Genet
; 18(6): 648-55, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20104244
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