Search details
1.
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Brain
; 145(2): 644-654, 2022 04 18.
Article
in English
| MEDLINE | ID: mdl-34590685
2.
PIGN encephalopathy: Characterizing the epileptology.
Epilepsia
; 63(4): 974-991, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35179230
3.
Trio exome sequencing is highly relevant in prenatal diagnostics.
Prenat Diagn
; 42(7): 845-851, 2022 06.
Article
in English
| MEDLINE | ID: mdl-34958143
4.
Correction: The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(8): 1426-1428, 2020 Aug.
Article
in English
| MEDLINE | ID: mdl-32451403
5.
The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(3): 511-523, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31680123
6.
A C-terminal BCOR nonsense variant in a male patient expands the phenotypic spectrum of BCOR-associated syndromic microphthalmia.
Clin Genet
; 100(4): 489-490, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34313322
7.
An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders.
bioRxiv
; 2024 Jan 09.
Article
in English
| MEDLINE | ID: mdl-38260472
8.
A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.
Am J Med Genet A
; 161A(10): 2634-40, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23949945
9.
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell Rep
; 38(11): 110517, 2022 03 15.
Article
in English
| MEDLINE | ID: mdl-35294868
10.
Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
Gene
; 768: 145260, 2021 Feb 05.
Article
in English
| MEDLINE | ID: mdl-33164824
11.
De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.
Mol Cytogenet
; 7(1): 7, 2014 Jan 23.
Article
in English
| MEDLINE | ID: mdl-24456940
12.
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.
Mol Cytogenet
; 7(1): 74, 2014.
Article
in English
| MEDLINE | ID: mdl-25349628
13.
X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?
Neurol Genet
; 5(3): e327, 2019 Jun.
Article
in English
| MEDLINE | ID: mdl-31192301
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