Page last updated: 2024-09-03

al-01567 and Facies

al-01567 has been researched along with Facies in 1 studies

Research

Studies (1)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	1 (100.00)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Cartault, F; Cormier-Daire, V; Doray, B; Jacquemont, ML; Laville, JM; Munier, P; Munnich, A; Payet, C; Randrianaivo, H; Vellayoudom, J	1

Other Studies

1 other study(ies) available for al-01567 and Facies

Article	Year
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. European journal of human genetics : EJHG, 2015, Volume: 23, Issue:1 Topics: Adolescent; Adult; Child; Facies; Female; Fluorenes; Founder Effect; Galactosyltransferases; Gene Frequency; Homozygote; Humans; Hydantoins; Male; Middle Aged; Mutation; Osteochondrodysplasias; Pedigree; Phenotype; Sequence Analysis, DNA; Young Adult	2015

Article

Year

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.

European journal of human genetics : EJHG, 2015, Volume: 23, Issue:1

Topics: Adolescent; Adult; Child; Facies; Female; Fluorenes; Founder Effect; Galactosyltransferases; Gene Frequency; Homozygote; Humans; Hydantoins; Male; Middle Aged; Mutation; Osteochondrodysplasias; Pedigree; Phenotype; Sequence Analysis, DNA; Young Adult

2015