Results 51 to 60 of about 346,440 (152)
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Epilepsia, Volume 67, Issue 7, Page 3629-3643, July 2026.Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli +43 more
wiley +1 more source
Expansão ex vivo de células-tronco/progenitoras hematopoiéticas de sangue de cordão umbilical e placentário [PDF]
, 2014 Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Programa de Pós-Graduação em Farmácia, Florianópolis, 2014.As Células-tronco progenitoras hematopoiéticas (CTPHs) do sangue de cordão umbilical e placentário (SCUP ...
Benedetti, Aloisio Luiz
core
MRI in Sheep Model for Myelomeningocele Repair Using a Novel Polymer and Other Dural Patches
Prenatal Diagnosis, Volume 46, Issue 8, Page 1267-1277, July 2026.ABSTRACT Objective To compare postnatal MRI outcomes after prenatal myelomeningocele repair using three different dural substitutes. Method 32 sheep fetuses were included, with 34.3%(11/32) serving as healthy controls and the remaining undergoing prenatal spinal lumbar defect creation to recreate a myelomeningocele in the fetus.
Usha D. Nagaraj +5 more
wiley +1 more source
BMC Pediatrics, 2022 Background Omphalocele is a congenital abdominal wall defect of the umbilical cord insertion site. A giant omphalocele, with a fascial defect > 5 cm in diameter and/or containing > 50% of the liver within the hernia sac, can be challenging for pediatric ...
Yoichi Nakagawa +12 more
doaj +1 more source
A United Kingdom survey of surgical technique and handling practice of inguinal canal structures during hernia surgery [PDF]
, 2006 Background: Recent trials have assessed the impact of elective nerve division on patient outcome after inguinal herniorrhaphy. The aim of this study was to establish UK surgical practice of handling of structures in the inguinal canal during ...
King, Peter M. +4 more
core +2 more sources
Gynecology Obstetrics & Reproductive Medicine, 2012 Umbilical cord pseudocysts in a newborn are very rare. They may be associated with patent urachus and hemangioma. Generally, they are localized in a particular section of the cord.
İbrahim Akkoyun +4 more
doaj
iNew Medicine, Volume 2, Issue 2, June 2026.This illustration synthesizes the methods and conclusion of this study, demonstrating that the transfer of mosaic embryos following reimplantation genetic testing for aneuploidy does not increase the risk to postnatal health. ABSTRACT Next‐generation sequencing (NGS) has increased the detection of mosaic embryos during preimplantation genetic testing ...
Lili Chen +10 more
wiley +1 more source
Amyand’s hernia : a case report [PDF]
, 2013 The presence of vermiform appendix, whether normal or inflamed in the inguinal hernia, is referred to as Amyand’s hernia. This is rare occurring in about 1% of inguinal hernias in adults.
Muscat, Peter
core
Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.We report a neonatal SDS patient with earliest onset of symptoms. The c.2935C>T and c.3149_3151delCAC compound heterozygous variants reported in this study expand the mutational spectrum of this disease. ABSTRACT Objective This investigation reports on a Shwachman‐Diamond syndrome (SDS) case arising from compound heterozygous genetic variations ...
Xiaoying Zhou +4 more
wiley +1 more source