Results 141 to 150 of about 138,890 (301)

Female underweight and risk of ectopic pregnancy

open access: yes
Female underweight and risk of ectopic ...
Bellver Pradas, José
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu   +21 more
wiley   +1 more source

Underweight and gynecological disorders young women

open access: yes, 2013
The results of kogornogo prospective study on the prevalence of underweight, frequency and structure of gynecological diseases in women 20—25 years old.
M B Khamoshina   +5 more
core  

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach   +23 more
wiley   +1 more source

Nutritional Status Link with Polioseronegativity Among Children from Poliomyelitis Transmission High-Risk Area of the Democratic Republic of the Congo (DRC)

open access: yesJournal of Multidisciplinary Healthcare
Guillaume N Mwamba,1,2 Michel Kabamba Nzaji,1,2 Nicole A Hoff,3 Patrick K Mukadi,4 Kamy Kaminye Musene,5 Sue K Gerber,6 Megan Halbrook,3 Cyrus Sinai,3 Trevon Fuller,3 Oscar Luboya Numbi,7 Emile Okitolonda Wemakoy,8 Jean Jacques Muyembe Tamfum,4 Dalau ...
Mwamba GN   +15 more
doaj  

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni   +19 more
wiley   +1 more source

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