about
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal DysplasiaMutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionLow first-trimester PAPP-A in IVF (fresh and frozen-thawed) pregnancies, likely due to a biological cause.Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.Factors Associated with Parental Adaptation to Children with an Undiagnosed Medical ConditionWhole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.Point mutation in p14ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma.NAD Deficiency, Congenital Malformations, and Niacin Supplementation.Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum.Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomasPredicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohortThe interplay of sun damage and genetic risk in Australian multiple and single primary melanoma cases and controlsUse of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challengingCompound heterozygous mutations in FBN1 in a large family with Marfan syndrome
P50
Q28117317-BBD077AB-9588-4994-85CC-03B35350E8BBQ36814753-4EA83EAF-2CDE-43C6-8CE0-7BB5EB422C96Q38674432-2A00EDB7-9E39-41A4-AD09-05EC52C16712Q39035327-AC27B2AA-8204-4C55-A4BA-D7C19378A818Q39869437-6E85AC6D-4E39-461C-83C9-37BC9FE35769Q40986370-0F5E1328-536B-4CDB-B7DB-188A8BE403E9Q41709001-E3DDD108-8532-4C9F-9D42-964EF3855C28Q47254237-F4E7662D-C4EB-4E99-A630-7C88AA96BD3BQ47973154-D24CC3F6-7532-4B5E-A103-0623F8A04EB6Q50521211-08AE36C2-FD94-4540-9C3D-490447F046FAQ50626990-7C0111B4-8935-49FB-8C4E-3E1C17DD5D94Q52580203-E992117A-0E18-467A-943D-6459177B115BQ53348076-94C98C56-7661-41F8-8233-C457C1002339Q57667365-B105F17E-4730-4573-AB06-2D6E6D86791BQ64987652-C7E9C3DC-575E-4B17-A3A4-615A0BA2A756Q91326059-1885B2EB-ECDF-4956-877D-2AD47FE8ED22Q91634288-25801018-D207-4F7C-857B-7C6E13DA389FQ92679634-876D03EF-AE0A-48C6-8B25-1E9D7398D630Q92722491-D3160234-5DDA-4420-BE14-43B518FA33A6
P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Aideen M McInerney-Leo
@en
Aideen M McInerney-Leo
@nl
type
label
Aideen M McInerney-Leo
@en
Aideen M McInerney-Leo
@nl
prefLabel
Aideen M McInerney-Leo
@en
Aideen M McInerney-Leo
@nl
P31
P496
0000-0002-0059-5732