| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings
|
Glaeser, Andressa Barreto
|
|
|
64 |
11 |
p.
|
artikel
|
| 2 |
Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease
|
Ozyavuz Cubuk, Pelin
|
|
|
64 |
11 |
p.
|
artikel
|
| 3 |
Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene
|
Takano, Takako
|
|
|
64 |
11 |
p.
|
artikel
|
| 4 |
A novel ARX loss of function variant in female monozygotic twins is associated with chorea
|
Rodgers, Jonathan
|
|
|
64 |
11 |
p.
|
artikel
|
| 5 |
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype
|
Fontana, Paolo
|
|
|
64 |
11 |
p.
|
artikel
|
| 6 |
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity
|
Dursun, Ali
|
|
|
64 |
11 |
p.
|
artikel
|
| 7 |
Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience
|
Gumus, Ersin
|
|
|
64 |
11 |
p.
|
artikel
|
| 8 |
Corrigendum to “ATP7B variant spectrum in a French pediatric Wilson disease cohort” [Eur. J. Med. Genet. 64(10) (2021) 104305]
|
Couchonnal, Eduardo
|
|
|
64 |
11 |
p.
|
artikel
|
| 9 |
Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature
|
La Fay, Charlotte
|
|
|
64 |
11 |
p.
|
artikel
|
| 10 |
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant
|
Gauthier, Lucas W
|
|
|
64 |
11 |
p.
|
artikel
|
| 11 |
Editorial Board
|
|
|
|
64 |
11 |
p.
|
artikel
|
| 12 |
Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant
|
Chia, Shi Yun
|
|
|
64 |
11 |
p.
|
artikel
|
| 13 |
First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood
|
Alstrup, Morten
|
|
|
64 |
11 |
p.
|
artikel
|
| 14 |
Molecular autopsy and subsequent functional analysis reveal de novo DSG2 mutation as cause of sudden death
|
Simons, Eline
|
|
|
64 |
11 |
p.
|
artikel
|
| 15 |
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype
|
Santos-Simarro, Fernando
|
|
|
64 |
11 |
p.
|
artikel
|
| 16 |
Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect
|
Huang, Shufang
|
|
|
64 |
11 |
p.
|
artikel
|
| 17 |
Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature
|
Lesieur-Sebellin, Marion
|
|
|
64 |
11 |
p.
|
artikel
|
| 18 |
Prenatal diagnosis of Baraitser – Winter syndrome using exome sequencing: Clinical report and review of literature
|
Papamichail, Maria
|
|
|
64 |
11 |
p.
|
artikel
|
| 19 |
Rare variants of primary liver cancer: Fibrolamellar, combined, and sarcomatoid hepatocellular carcinomas
|
Wege, Henning
|
|
|
64 |
11 |
p.
|
artikel
|
| 20 |
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments
|
Felzen, Antonia
|
|
|
64 |
11 |
p.
|
artikel
|
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