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10 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2	Markholt, Sara			66	2	p.	article
2	Bridging the language gap - A call for the wider use of Human phenotype ontology by non-geneticist clinicians when requesting genomic tests	Tchuisseu-Kwangoua, Larissa Ange			66	2	p.	article
3	Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing	Yamada, Mamiko			66	2	p.	article
4	Editorial Board				66	2	p.	article
5	European collaboration on genetic tumour risk syndromes	Vetti, Hildegunn H.			66	2	p.	article
6	Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	Bloch, Adrien			66	2	p.	article
7	Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia	Geerts, Chloé			66	2	p.	article
8	Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to “Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma” by Cárcamo et al. 2022	van der Sluijs, P.J.			66	2	p.	article
9	Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism	Di Rocco, Federico			66	2	p.	article
10	UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate	Kong, Ying			66	2	p.	article

10 results found

Koninklijke Bibliotheek - National Library of the Netherlands