| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations
|
Al Ghamdi, Malak A.
|
|
|
63 |
3 |
p.
|
artikel
|
| 2 |
A de novo mutation in FMR1 in a patient with intellectual disability
|
Maddirevula, Sateesh
|
|
|
63 |
3 |
p.
|
artikel
|
| 3 |
A longitudinal perspective on the pharmacotherapy of 24 adult patients with Phelan McDermid syndrome
|
Verhoeven, Willem M.A.
|
|
|
63 |
3 |
p.
|
artikel
|
| 4 |
A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability
|
Mishra, Shivani
|
|
|
63 |
3 |
p.
|
artikel
|
| 5 |
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome
|
Nevanlinna, Viivi
|
|
|
63 |
3 |
p.
|
artikel
|
| 6 |
A successful treatment of tadalafil in incontinentia pigmenti with pulmonary hypertension
|
Mizuno, Masanori
|
|
|
63 |
3 |
p.
|
artikel
|
| 7 |
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy
|
Robyns, Tomas
|
|
|
63 |
3 |
p.
|
artikel
|
| 8 |
Co-inheritance of pathogenic variants in PKD1 and PKD2 genes presenting as severe antenatal phenotype of autosomal dominant polycystic kidney disease
|
Arora, Veronica
|
|
|
63 |
3 |
p.
|
artikel
|
| 9 |
Development of esophageal squamous cell cancer in patients with FAMMM syndrome: Two clinical reports
|
van der Wilk, Berend J.
|
|
|
63 |
3 |
p.
|
artikel
|
| 10 |
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation
|
Guerra, João V.S.
|
|
|
63 |
3 |
p.
|
artikel
|
| 11 |
Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient
|
Christoforou, Stephanie
|
|
|
63 |
3 |
p.
|
artikel
|
| 12 |
Editorial Board
|
|
|
|
63 |
3 |
p.
|
artikel
|
| 13 |
Exploration of genetic health professional - laboratory specialist interactions in diagnostic genomic sequencing
|
Vears, Danya F.
|
|
|
63 |
3 |
p.
|
artikel
|
| 14 |
First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India
|
Gupta, Neerja
|
|
|
63 |
3 |
p.
|
artikel
|
| 15 |
Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene
|
Barrie, Elizabeth S.
|
|
|
63 |
3 |
p.
|
artikel
|
| 16 |
Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib
|
Sarajlija, Adrijan
|
|
|
63 |
3 |
p.
|
artikel
|
| 17 |
Intragenic CNTN4 copy number variants associated with a spectrum of neurobehavioral phenotypes
|
Zhang, Stephanie Q.
|
|
|
63 |
3 |
p.
|
artikel
|
| 18 |
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review
|
Rubinato, Elisa
|
|
|
63 |
3 |
p.
|
artikel
|
| 19 |
Mild macrocytosis in Williams-Beuren syndrome
|
Yu, Eric
|
|
|
63 |
3 |
p.
|
artikel
|
| 20 |
Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome
|
Karstensen, Helena Gásdal
|
|
|
63 |
3 |
p.
|
artikel
|
| 21 |
Novel missense variant in TTN cosegregating with familial atrioventricular block
|
Liu, Guohui
|
|
|
63 |
3 |
p.
|
artikel
|
| 22 |
Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population
|
Salehi Chaleshtori, Ahmad Reza
|
|
|
63 |
3 |
p.
|
artikel
|
| 23 |
RIN2 and BBS7 variants as cause of a coincidental syndrome
|
Shaukat, Memoona
|
|
|
63 |
3 |
p.
|
artikel
|
| 24 |
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion
|
Pascolini, Giulia
|
|
|
63 |
3 |
p.
|
artikel
|
| 25 |
The spectrum of Lynch syndrome-associated germ-line mutations in Russia
|
Yanus, Grigoriy A.
|
|
|
63 |
3 |
p.
|
artikel
|
| 26 |
Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2
|
Inui, Takehiko
|
|
|
63 |
3 |
p.
|
artikel
|
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