Results 61 to 70 of about 172,684 (393)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah +6 more
wiley +1 more source
A univentricular heart : tricuspid atresia [PDF]
, 2013 A two-year-three-month-old boy was diagnosed with tricuspid atresia. This condition requires three surgical interventions, of which he has already had two. He has now presented to hospital with shortness of breath.
Mifsud, Simon, Schembri, Emma
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Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome [PDF]
, 2019 Biliary atresia (BA) is the most common cause of end‐stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown.
Alonso, Estella M +33 more
core +2 more sources
Reoperation of Anastomotic Stricture after Oesophageal Atresia Repair: An Uncommon Event
African Journal of Paediatric Surgery, 2017 Oesophageal atresia is a common malformation in which the survival rate in developed countries is around 90%, while its mortality remains very high in developing countries. Oesophageal stricture post-oesophageal atresia repair is traditionally treated by
A L Azakpa +3 more
doaj +1 more source
A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas +2 more
wiley +1 more source
Vibrant soundbridge implantation prior to auricular reconstruction with unilateral microtia‐atresia
Clinical Case Reports, 2021 We presented the first successful application of VSB implantation prior to auriculoplasty, which can provide hearing improvement in safe conditions and open new strategies for earlier hearing rehabilitation in unilateral microtia‐atresia children.
Hidekane Yoshimura +7 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL).
Annie Kakamousias, Kim Blake
wiley +1 more source
The incidence of portal vein thrombosis at liver transplantation [PDF]
, 1992 The incidence of portal vein thrombosis was examined in 885 patients who received orthotopic liver transplantations for various end‐stage liver diseases between 1989 and 1990. The thrombosis was classified into four grades.
Iwatsuki, S +3 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy +15 more
wiley +1 more source
Annual fecundity, batch fecundity, and oocyte atresia of Atka mackerel (Pleurogrammus monopterygius) in Alaskan waters [PDF]
, 2007 Annual potential fecundity, batch fecundity, and oocyte atresia were estimated for Atka mackerel (Pleurogrammus monopterygius) collected in Alaskan waters during 1993−94.
Gunderson, Donald R. +2 more
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