Results 181 to 190 of about 1,882,183 (334)

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois   +5 more
wiley   +1 more source

Successful Sirolimus Treatment for Recurrent Pericardial Effusion in a Large Cervicomediastinal Provisionally Unclassified Vascular Anomaly: A Case Report. [PDF]

open access: yesEuropean J Pediatr Surg Rep, 2023
Moreno-Alfonso JC   +6 more
europepmc   +1 more source

Translucent Papules on a Mastectomy Scar

open access: yes
JEADV Clinical Practice, EarlyView.
Hind Ouerghi   +5 more
wiley   +1 more source

A Clearer Picture: Using Fetal MRI to Diagnose Neck Masses and Predict Airway Compromise

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Introduction Fetal neck masses are rare but can be life‐threatening if causing airway compromise. Early and accurate diagnosis of these masses allows life‐saving interventions to be undertaken at birth in the form of the EXIT procedure. Methods A single institution case series of all patients referred for fetal MRI to a tertiary center in the ...
Louise Wilson   +2 more
wiley   +1 more source

Robotic distal gastrectomy for gastric cancer in a patient with situs inversus totalis and a vascular anomaly. [PDF]

open access: yesInt Cancer Conf J, 2022
Sagawa H   +11 more
europepmc   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

open access: yesPediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo   +18 more
wiley   +1 more source

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