Most early-onset epileptic encephalopathies (EOEE) are caused by genetic defects. In the past, mutations, especially in genes encoding sodium channels, have been identified using linkage studies,...
Neuropathol. Appl. Neurobiol. - issue: - volume: - pages: .

Several brominated disinfection by-products (DBPs) are formed in chlorinated seawater pools, due to the high concentration of bromide in seawater. UV irradiation is increasingly employed in freshwater...
Sci. Total Environ. - issue: - volume: 599-600 - pages: 910-917.

OBJECTIVE: To investigate the relationship between Motor Unit Number Index (MUNIX) and functional scales in patients with anti-Myelin Associated Glycoprotein (MAG) neuropathy and to know if MUNIX is...
Clin Neurophysiol - issue: 7 - volume: 128 - pages: 1264-1269.

OBJECTIVE: To investigate the relationship between Motor Unit Number Index (MUNIX) and functional scales in patients with anti-Myelin Associated Glycoprotein (MAG) neuropathy and to know if MUNIX is...
Clin Neurophysiol - issue: 7 - volume: 128 - pages: 1264-1269.

OBJECTIVE: To investigate the relationship between Motor Unit Number Index (MUNIX) and functional scales in patients with anti-Myelin Associated Glycoprotein (MAG) neuropathy and to know if MUNIX is...
Clin Neurophysiol - issue: 7 - volume: 128 - pages: 1264-1269.

We use a genomic sampling of both nuclear and mitochondrial DNA markers to examine a pattern of genetic admixture between Carcharhinus galapagensis (Galapagos sharks) and Carcharhinus obscurus (dusky...
Mol. Phylogenet. Evol. - issue: - volume: 110 - pages: 122-126.

PURPOSE: Charged particles have several advantages over x-ray radiations, both in terms of physics and radiobiology. The combination of these advantages with those of minibeam radiation therapy (MBRT)...
Med Phys - issue: 5 - volume: 44 - pages: 1921-1929.

Despite its high prevalence and mortality, little is known about the pathogenesis of rheumatoid arthritis-associated interstitial lung disease (RA-ILD). Given that familial pulmonary fibrosis (FPF)...
Eur. Respir. J. - issue: 5 - volume: 49 - pages: .

We hypothesize that the trisomy 21 (Down syndrome) is the additive and interactive outcome of the triple copy of different regions of HSA21. Because of the small number of patients with partial...
Behav. Genet. - issue: 3 - volume: 47 - pages: 305-322.

We hypothesize that the trisomy 21 (Down syndrome) is the additive and interactive outcome of the triple copy of different regions of HSA21. Because of the small number of patients with partial...
Behav. Genet. - issue: 3 - volume: 47 - pages: 305-322.

We use a genomic sampling of both nuclear and mitochondrial DNA markers to examine a pattern of genetic admixture between Carcharhinus galapagensis (Galapagos sharks) and Carcharhinus obscurus (dusky...
Mol. Phylogenet. Evol. - issue: - volume: 110 - pages: 122-126.

OBJECTIVE: The aim of this study was to identify antenatal prognostic factors of neonatal outcomes in cases of fetal echogenic bowel (FEB). STUDY DESIGN: A retrospective study in three tertiary...
Eur. J. Obstet. Gynecol. Reprod. Biol. - issue: - volume: 212 - pages: 166-170.

OBJECTIVE: The aim of this study was to identify antenatal prognostic factors of neonatal outcomes in cases of fetal echogenic bowel (FEB). STUDY DESIGN: A retrospective study in three tertiary...
Eur. J. Obstet. Gynecol. Reprod. Biol. - issue: - volume: 212 - pages: 166-170.

Despite its high prevalence and mortality, little is known about the pathogenesis of rheumatoid arthritis-associated interstitial lung disease (RA-ILD). Given that familial pulmonary fibrosis (FPF)...
Eur. Respir. J. - issue: 5 - volume: 49 - pages: .

CONTEXT: Acromegaly is a rare disease associated with chronic multisystem complications. National registries have been created in several countries. DESIGN: The French Registry contains data on...
Eur. J. Endocrinol. - issue: 5 - volume: 176 - pages: 645-655.

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71...
Brain - issue: 5 - volume: 140 - pages: 1316-1336.

OBJECTIVE: The aim of this study was to identify antenatal prognostic factors of neonatal outcomes in cases of fetal echogenic bowel (FEB). STUDY DESIGN: A retrospective study in three tertiary...
Eur. J. Obstet. Gynecol. Reprod. Biol. - issue: - volume: 212 - pages: 166-170.

Behav. Genet. - issue: 3 - volume: 47 - pages: 323.

Behav. Genet. - issue: 3 - volume: 47 - pages: 323.

Despite many years of research, the causes of biliary atresia still remain elusive. Infection, immune disorder, toxins or maternal microchimerism have been cited as potential triggers of biliary...
Med. Hypotheses - issue: - volume: 102 - pages: 91-93.