Results 101 to 110 of about 7,210 (112)

Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia

Bone, 2013
J Wirbelauer, H Girschick, S Kunzmann
exaly  

ALPL regulates the aggressive potential of high grade serous ovarian cancer cells via a non-canonical WNT pathway

Biochemical and Biophysical Research Communications, 2019
Lin Zhou, Ruo-Nan Li, Hua Linghu
exaly  

A Rare ALPL Gene Mutation in Adult-Onset Hypophosphatasia

Endocrine Practice
openaire   +1 more source

Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures

JBMR Plus, 2019
Eva González-Roca, Núria Guañabens, Sebastian C Rodríguez-García   +2 more
exaly  

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia

American Journal of Medical Genetics, Part A, 2017
J Argente, Mona Aglan, Jair Antonio Tenorio   +2 more
exaly  

New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry

American Journal of Medical Genetics, Part A
Gabriel Angel Martos-Moreno, Priya Kishnani, William Mowrey   +2 more
exaly  

A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene

Journal of Pediatric Endocrinology and Metabolism
Yuji Oto, Nobuyuki Murakami
exaly  

Novel human pathological mutations. Gene symbol: ALPL. Disease: hypophosphatasia.

Human genetics, 2009
Bertola, F, Arosio, C, Casati, G, PIPERNO, ALBERTO, Crosti, F, Colombo, C.   +5 more
openaire   +2 more sources

A case of perinatal hypophosphatasia with a novel mutation in the <i>ALPL</i> gene: clinical course and review of the literature

Clinical Pediatric Endocrinology, 2018
exaly  

Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene

Frontiers in Endocrinology
FRANCISCO Luis Andújar Vera, Cristina Garcia FONTANA, Manuel Munoz-Torres   +2 more
exaly