Search details
1.
Role of CAMK2D in neurodevelopment and associated conditions.
Am J Hum Genet
; 111(2): 364-382, 2024 Feb 01.
Article
in English
| MEDLINE | ID: mdl-38272033
2.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain
; 2023 Dec 01.
Article
in English
| MEDLINE | ID: mdl-38038360
3.
5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression.
Am J Med Genet A
; 191(3): 835-841, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36458506
4.
Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?
J Genet Couns
; 31(2): 523-533, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34674352
5.
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Hum Mol Genet
; 29(6): 1054, 2020 04 15.
Article
in English
| MEDLINE | ID: mdl-32016392
6.
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Hum Mol Genet
; 22(5): 1026-38, 2013 Mar 01.
Article
in English
| MEDLINE | ID: mdl-23221805
7.
Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.
Hum Mol Genet
; 21(18): 4115-25, 2012 Sep 15.
Article
in English
| MEDLINE | ID: mdl-22723016
8.
Incomplete spinal cord injury following minor trauma in two siblings with spondylocostal dysostis type 6.
Spine Deform
; 12(2): 507-511, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38097876
9.
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.
J Med Genet
; 48(5): 299-307, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21525063
10.
Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a de novo Mutation in the CAMK2B Gene (c.328G>A p.Glu110Lys).
Front Pharmacol
; 13: 794008, 2022.
Article
in English
| MEDLINE | ID: mdl-35620293
11.
Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
Front Pediatr
; 9: 772800, 2021.
Article
in English
| MEDLINE | ID: mdl-34900871
12.
Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.
Front Pediatr
; 9: 800915, 2021.
Article
in English
| MEDLINE | ID: mdl-35186825
13.
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
JAMA Netw Open
; 3(9): e2018109, 2020 09 01.
Article
in English
| MEDLINE | ID: mdl-32960281
14.
Genetic screening of a Dutch population with isolated GH deficiency (IGHD).
Clin Endocrinol (Oxf)
; 70(5): 742-50, 2009 May.
Article
in English
| MEDLINE | ID: mdl-18785993
15.
DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.
Eur J Hum Genet
; 26(12): 1867-1870, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30139987
16.
Congenital diaphragmatic hernia and a complex heart defect in association with Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 152A(11): 2891-4, 2010 Nov.
Article
in English
| MEDLINE | ID: mdl-20830802
17.
Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts.
Eur J Hum Genet
; 20(3): 298-304, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22071887
18.
PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency.
Horm Res Paediatr
; 73(5): 363-71, 2010.
Article
in English
| MEDLINE | ID: mdl-20389107
19.
Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient.
PLoS One
; 5(12): e15348, 2010 Dec 21.
Article
in English
| MEDLINE | ID: mdl-21203572
20.
Retinol status of newborn infants is associated with congenital diaphragmatic hernia.
Pediatrics
; 126(4): 712-20, 2010 Oct.
Article
in English
| MEDLINE | ID: mdl-20837596
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