| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ANO3 and early-onset dyskinetic encephalopathy
|
Jiménez de Domingo, Ana
|
|
|
63 |
12 |
p.
|
artikel
|
| 2 |
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies
|
Viollet, Louis M.
|
|
|
63 |
12 |
p.
|
artikel
|
| 3 |
An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis
|
Evangelidou, Paola
|
|
|
63 |
12 |
p.
|
artikel
|
| 4 |
Association analysis of FMR1 genetic variants and primary ovarian insufficiency in South Indian women with a novel approach of CGG repeats classification
|
Komaravalli, Prasanna Latha
|
|
|
63 |
12 |
p.
|
artikel
|
| 5 |
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome
|
Roux-Levy, Pierre-Henri
|
|
|
63 |
12 |
p.
|
artikel
|
| 6 |
ATP7A mutation with occipital horns and distal motor neuropathy: A continuum
|
Fradin, Melanie
|
|
|
63 |
12 |
p.
|
artikel
|
| 7 |
Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease
|
Su, Xueying
|
|
|
63 |
12 |
p.
|
artikel
|
| 8 |
DNA promoter methylation of CCM genes in human cerebral cavernous malformations: Importance of confirming MSP data through sequencing
|
Saban, Dino
|
|
|
63 |
12 |
p.
|
artikel
|
| 9 |
Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes
|
Ye, Xiantao
|
|
|
63 |
12 |
p.
|
artikel
|
| 10 |
Editorial Board
|
|
|
|
63 |
12 |
p.
|
artikel
|
| 11 |
Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency
|
Rojnueangnit, Kitiwan
|
|
|
63 |
12 |
p.
|
artikel
|
| 12 |
Global retardation and hereditary spherocytosis associated with a novel deletion of chromosome 8p11.21 encompassing KAT6A and ANK1
|
Wang, Dayan
|
|
|
63 |
12 |
p.
|
artikel
|
| 13 |
IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association
|
Montolío-Marzo, Santiago
|
|
|
63 |
12 |
p.
|
artikel
|
| 14 |
Impact of COVID-19 pandemic on patients with rare disease in Hong Kong
|
Chung, Claudia CY.
|
|
|
63 |
12 |
p.
|
artikel
|
| 15 |
Methionine adenosyltransferase I/III deficiency: Long-term follow-up and treatment of 3 adult siblings
|
Bannick, Allison
|
|
|
63 |
12 |
p.
|
artikel
|
| 16 |
Molecular characterization of temple syndrome families with 14q32 epimutations
|
Brück, Johanna
|
|
|
63 |
12 |
p.
|
artikel
|
| 17 |
MUTYH-associated polyposis: Review and update of the French recommendations established in 2012 under the auspices of the National Cancer institute (INCa)
|
Colas, Chrystelle
|
|
|
63 |
12 |
p.
|
artikel
|
| 18 |
Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency
|
Andelman-Gur, Michal M.
|
|
|
63 |
12 |
p.
|
artikel
|
| 19 |
National recommendations of the French Genetics and Cancer Group - Unicancer on the modalities of multi-genes panel analyses in hereditary predispositions to tumors of the digestive tract
|
Dhooge, Marion
|
|
|
63 |
12 |
p.
|
artikel
|
| 20 |
Novel compound heterozygous variants in the STIL gene identified in a Chinese family with presentation of foetal microcephaly
|
Cheng, Chen
|
|
|
63 |
12 |
p.
|
artikel
|
| 21 |
Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family
|
Razmara, Ehsan
|
|
|
63 |
12 |
p.
|
artikel
|
| 22 |
Osteogenesis imperfecta type I: The role of deep phenotyping in a patient with a ruptured uterus
|
Redman, Melody Grace
|
|
|
63 |
12 |
p.
|
artikel
|
| 23 |
Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium
|
Chawner, Samuel J.R.A.
|
|
|
63 |
12 |
p.
|
artikel
|
| 24 |
Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability
|
Rao, Anupam Canchi Arun
|
|
|
63 |
12 |
p.
|
artikel
|
| 25 |
Phenotypic spectrum of SHANK2-related neurodevelopmental disorder
|
Caumes, Roseline
|
|
|
63 |
12 |
p.
|
artikel
|
| 26 |
Presymptomatic diagnosis of CYP24A1-related infantile idiopathic hypercalcemia: A case report
|
Mirea, Andreea-Manuela
|
|
|
63 |
12 |
p.
|
artikel
|
| 27 |
17q23.3 de novo microdeletion involving only TANC2 gene: A new case
|
Tassano, E.
|
|
|
63 |
12 |
p.
|
artikel
|
| 28 |
3q29 microduplication syndrome: Clinical and molecular description of eleven new cases
|
Coyan, Alyxis G.
|
|
|
63 |
12 |
p.
|
artikel
|
| 29 |
Severe gastrointestinal symptoms caused by a novel DDX3X variant
|
Okano, Satomi
|
|
|
63 |
12 |
p.
|
artikel
|
| 30 |
Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1
|
Al-Sannaa, N.A.
|
|
|
63 |
12 |
p.
|
artikel
|
| 31 |
The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals
|
Salazar-Mendiguchía, Joel
|
|
|
63 |
12 |
p.
|
artikel
|
| 32 |
The tip of the iceberg for diagnostic dilemmas: Performance of current diagnostics and future complementary screening approaches
|
Bastos, Paulo A.D.
|
|
|
63 |
12 |
p.
|
artikel
|
| 33 |
Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic
|
Benusiglio, Patrick R.
|
|
|
63 |
12 |
p.
|
artikel
|
| 34 |
Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome
|
Sparber, Peter
|
|
|
63 |
12 |
p.
|
artikel
|
| 35 |
Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition
|
Thomas, Lauren A.
|
|
|
63 |
12 |
p.
|
artikel
|
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