Results 51 to 60 of about 114,602 (311)
Ecosphere, 2022 To determine the proportion of inviable oocytes that are spawned along with normal oocytes in marine bivalves, we turned to a time‐honored technique not previously used on invertebrate oocytes: the neutral red vital stain.
Peter G. Beninger +3 more
doaj +1 more source
Pulmonary valvulotomy in a fetus with pulmonary atresia with intact ventricular septum : first experience in Turkey [PDF]
, 2012 The mortality and morbidity of children with pulmonary atresia with intact ventricular septum (PA/IVS) is closely related with right ventricle hypoplasia and its consequent hemodynamics.
Danısman, N., Polat, Tugcin Bora
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Atresia anal tipo III com presença de fístula vaginal e megacólon: Relato de caso
Pubvet, 2018 O presente relato de caso tem como objetivo apresentar um caso de atresia anal tipo III, com megacólon e fistula vaginal em cão sem raça definida. A técnica cirúrgica utilizada e a conduta pós cirúrgica com a realização de enemas diários e hidratação foi
Tairine Melo Costa +7 more
doaj +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
An antenatal diagnosis: Congenital high airway obstruction
Annals of Cardiac Anaesthesia, 2017 Congenital high airway obstruction (CHAOS) is a rare lethal fetal malformation characterised by obstruction to the fetal upper airway, which can be partial or complete. Antenatal diagnosis of CHAOS is important due to recent management options. Diagnosis
S Miital +4 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Sexual differentiation and gonad development in striped mullet (Mugil cephalus L.) from South Carolina estuaries* [PDF]
, 2005 This study examined the sexual differentiation and reproductive dynamics of striped mullet (Mugil cephalus L.) in the estuaries of South Carolina.
McDonough, Christopher J. +2 more
core +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source