| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India
|
Ravichandran, Lavanya
|
|
|
64 |
12 |
p.
|
artikel
|
| 2 |
A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation
|
Paneque, Milena
|
|
|
64 |
12 |
p.
|
artikel
|
| 3 |
A novel COLEC10 mutation in a child with 3MC syndrome
|
Migliorero, Martina
|
|
|
64 |
12 |
p.
|
artikel
|
| 4 |
A novel non-sense mutation in TDP2 causes spinocerebellar ataxia autosomal recessive 23 accompanied by bilateral upward gaze; report of a case and review of the literature
|
Zoghi, Sina
|
|
|
64 |
12 |
p.
|
artikel
|
| 5 |
Apparent homozygosity for a novel splicing variant in EPS8 causes congenital profound hearing loss
|
Yu, Sha
|
|
|
64 |
12 |
p.
|
artikel
|
| 6 |
B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient
|
Bolund, Anneli C.S.
|
|
|
64 |
12 |
p.
|
artikel
|
| 7 |
Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1
|
Gladys, Battisti
|
|
|
64 |
12 |
p.
|
artikel
|
| 8 |
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation
|
Salinas, Valeria
|
|
|
64 |
12 |
p.
|
artikel
|
| 9 |
Concurrent pathogenic variations in patients with hereditary cancer syndromes
|
Agaoglu, Nihat Bugra
|
|
|
64 |
12 |
p.
|
artikel
|
| 10 |
Editorial Board
|
|
|
|
64 |
12 |
p.
|
artikel
|
| 11 |
Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father
|
Dushar, Marya
|
|
|
64 |
12 |
p.
|
artikel
|
| 12 |
ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature
|
Russo, Angelo
|
|
|
64 |
12 |
p.
|
artikel
|
| 13 |
Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia
|
Arsov, Todor
|
|
|
64 |
12 |
p.
|
artikel
|
| 14 |
Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly
|
Ben Ayed, Ikhlas
|
|
|
64 |
12 |
p.
|
artikel
|
| 15 |
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature
|
Li, Yi
|
|
|
64 |
12 |
p.
|
artikel
|
| 16 |
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature
|
Santoro, Claudia
|
|
|
64 |
12 |
p.
|
artikel
|
| 17 |
3-Methylglutaconic aciduria in carriers of primary carnitine deficiency
|
Ziats, Catherine A.
|
|
|
64 |
12 |
p.
|
artikel
|
| 18 |
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome
|
Abdala, Bianca Barbosa
|
|
|
64 |
12 |
p.
|
artikel
|
| 19 |
Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants
|
Tüysüz, Beyhan
|
|
|
64 |
12 |
p.
|
artikel
|
| 20 |
Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum
|
Nilay, Mayank
|
|
|
64 |
12 |
p.
|
artikel
|
| 21 |
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe
|
Marmolejo, David Humberto
|
|
|
64 |
12 |
p.
|
artikel
|
| 22 |
Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results
|
Rana, Huma Q.
|
|
|
64 |
12 |
p.
|
artikel
|
| 23 |
Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome
|
Drissen, Meggie M.C.M.
|
|
|
64 |
12 |
p.
|
artikel
|
| 24 |
Somatic mosaics in hereditary tumor predisposition syndromes
|
Steinke-Lange, Verena
|
|
|
64 |
12 |
p.
|
artikel
|
| 25 |
The Angelman Syndrome Online Registry – A multilingual approach to support global research
|
Krey, Ilona
|
|
|
64 |
12 |
p.
|
artikel
|
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