Results 91 to 100 of about 10,016 (193)

Congenital Midline Cervical Cleft Associated With Transient Antenatal Polyhydramnios Despite Normal Prenatal Imaging: A Case Report. [PDF]

Cureus
Kunarathnam V, Deshpande R, Guerrero N, Asad M, Udom-Rice I.   +4 more
europepmc   +1 more source

Identification of Three Novel <i>MAGED2</i> Variants Causing Antenatal Bartter Syndrome in Three Chinese Families. [PDF]

Genes (Basel)
Yang S, Li X, Jiang H, Cheng J, Li C, Xie X, Xiao X.   +6 more
europepmc   +1 more source

Undiagnosed Maternal Myotonic Dystrophy Type 1 Revealed by Congenital Myotonic Dystrophy in the Neonate. [PDF]

Cureus
Suzui R, Wada I, Matsubara M, Kataoka D.
europepmc   +1 more source

Identification of a Novel MTM1 Mutation Associated with X-Linked Myotubular Myopathy: Clinical and Molecular Insights for Prenatal Diagnosis. [PDF]

Int J Womens Health
Chen S, Liang B, Lin N, Pan M, Li L.
europepmc   +1 more source

A Case of Nonimmune Hydrops Fetalis With a Duct-Dependent Systemic Circulation and a Novel Mutation of Kabuki Syndrome. [PDF]

Case Rep Genet
Prasad R, Sahoo S, Dalai R, Pathak KK, Chowdhary BK.   +4 more
europepmc   +1 more source

Epidermolysis bullosa accompanied by long-segment gastric outlet obstruction in a newborn: a report of a rare case. [PDF]

J Surg Case Rep
Al Quran TM, Abdelradi MU, Ragheb S, Al-Darwish AS, Alsutaif TI, Bataineh ZA.   +5 more
europepmc   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios. [PDF]

Prenat Diagn
Glassner VO, Botvinik A, Mory A, Reches A, Haratz KK, Fleming BM, Feldman HB, Sagi-Dain L, Shohat M, Goldstein RJ, Yaron Y, Levy M.   +11 more
europepmc   +1 more source

Diagnosis and management of mirror syndrome: a case series with emphasis on the potential role of the sFLT-1/PlGF ratio in clinical practice. [PDF]

Rev Bras Ginecol Obstet
Behenck GS, Curtois F, El Beitune P, Jimenez MF, Vettorazzi J, da Silva MB, Muller B, Teixeira L, Longo C, Callado GY, Araujo Júnior E, Micheletti T.   +11 more
europepmc   +1 more source

De novo activating GUCY2C variant with prenatal bowel dilatation, neonatal functional obstruction, and reversible intestinal failure: A case report. [PDF]

Intest Fail
Cantagalli MM, Amato T, Chioccioli S, Coletta R, Morabito A.   +4 more
europepmc   +1 more source

X-linked myotubular myopathy in a neonate: a case report and literature review. [PDF]

Front Pediatr
Chen L, Zou YQ.
europepmc   +1 more source