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20 results found

no	title	author	magazine	year	volume	issue	page(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.	article
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.	article
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.	article
4	A novel ARX loss of function variant in female monozygotic twins is associated with chorea	Rodgers, Jonathan			64	11	p.	article
5	A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype	Fontana, Paolo			64	11	p.	article
6	Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity	Dursun, Ali			64	11	p.	article
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.	article
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.	article
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.	article
10	Description of a novel patient with the TRPM3 recurrent p.Val837Met variant	Gauthier, Lucas W			64	11	p.	article
11	Editorial Board				64	11	p.	article
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.	article
13	First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood	Alstrup, Morten			64	11	p.	article
14	Molecular autopsy and subsequent functional analysis reveal de novo DSG2 mutation as cause of sudden death	Simons, Eline			64	11	p.	article
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.	article
16	Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect	Huang, Shufang			64	11	p.	article
17	Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature	Lesieur-Sebellin, Marion			64	11	p.	article
18	Prenatal diagnosis of Baraitser – Winter syndrome using exome sequencing: Clinical report and review of literature	Papamichail, Maria			64	11	p.	article
19	Rare variants of primary liver cancer: Fibrolamellar, combined, and sarcomatoid hepatocellular carcinomas	Wege, Henning			64	11	p.	article
20	The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments	Felzen, Antonia			64	11	p.	article

20 results found

Koninklijke Bibliotheek - National Library of the Netherlands