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UnknownMonitoring Perinatal Gut Microbiota in Mouse Models by Mass Spectrometry Approaches: Parental Genetic Background and Breastfeeding Effects.
Not available
S-EPMC5036385 | biostudies-literature
UnknownMapping a dominant form of multinodular goiter to chromosome Xp22.
Not available
S-EPMC1287870 | biostudies-literature
GenomicsCiliopathies Exome Sequencing Initiative

The study is aimed at identifying new genes involved in pediatric brain disorders from inbred families originating predominantly in the Middle East. Each patient analyzed to date has a specific and highly unique neurodevelopmental disorder that is likely to be recessive in nature. Many patien...

phs000288.v1.p1 | EGA
ProteomicsCharacterisation of the gut microbiota metaproteome in patients affected by the Williams Beuren syndrome
Analyses were performed on stool samples collected from 41 patients affected by Williams Beuren syndrome (Wills, WBSs) to evaluate their gut microbiota metaproteome signatures by LFQ and LCA approaches in comparison to 45 healthy subjects (controls, CTRs, CTRLs)
ORGANISM(S): Bacteria (ncbitaxon:2) Homo Sapiens (ncbitaxon:9606) 
2023-01-11 | MSV000091045 | MassIVE
GenomicsCIDR Whole Exome Sequencing in Joubert Syndrome

The purpose of this study is to identify new genetic causes of neurodevelopmental diseases (NDDs) in the Joubert syndrome (JS) spectrum. Joubert syndrome is a recessive disease characterized by cerebellar vermis hypoplasia. Our currently funded NINDS award entitled "Molecular characterization of ...

phs000382.v1.p1 | EGA
TranscriptomicsDeletion of UTX, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.
Kabuki syndrome (KS) is a rare multiple congenital anomalies/mental retardation (MCA/MR) syndrome described in 19811,2. In 2010, exome sequencing identified MLL2 mutations in patients with KS3. Since then, 5 studies identified a mutation in MLL2 in 56-75,6% of KS patients3-7. Here, we describe 2 ...
ORGANISM(S): Homo sapiens 
2012-01-01 | E-GEOD-32567 | biostudies-arrayexpress
UnknownEfficacy of n-3 polyunsaturated fatty acids and feasibility of optimizing preventive strategies in patients at high cardiovascular risk: rationale, design and baseline characteristics of the Rischio and Prevenzione study, a large randomised trial in general practice.
Not available
S-EPMC2909229 | biostudies-literature
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