L. Garavelli

Discipline

Anthropologie biologique (1)

Type de document

Articles (8)

Co-auteur

Date

Source

Mot-clé

mutation (6) gène (6) Human beings (6) Mutation (6) analyse (5) Phenotype (5) Analysis (5) Patients (4) Patients (4) tissu (corporel) (3) ADN (3) enfant (3) Cases (3) Abnormalities (3) Families (3) Eye (3) DNA (3) Plants--Abnormalities (3) Animals--Abnormalities (3) Abnormalities, Human (3) Cases (3) maladie (3) nourisson (2) peau (2) région (2) association (2) maladie (2) index (2) Diagnosis (2) Development (2)

Documents écrit par L. Garavelli (8) | parle de L. Garavelli (0)

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
M. Pollazzon et al. (23 déc. 2021)
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
S.G. Caraffi et al. (12 oct. 2019)
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
G. Mirzaa et al. (16 juin 2016)
Further delineation of the KAT6B molecular and phenotypic spectrum.
T. Gannon et al. (2015)
Multiple sulfatase deficiency with neonatal manifestation.
L. Garavelli et al. (17 déc. 2014)
Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
J. Rainger et al. (2011)
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
L. Micale et al. (2011)
Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome.
M.E. Bowen et al. (2011)