Results 131 to 140 of about 3,577 (186)

Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue

The Turkish Journal of Pediatrics, 2008
Larsen syndrome is characterized by multiple joint dislocations, associated with a typical facial appearance and frequently other abnormalities. Both dominant and recessive patterns of inheritance have been reported.
Diclehan Orhan, Sevim Balci, Ozgür Deren, Eda Gülen Utine, Ahmet Başaran, Gülsev Kale   +5 more
doaj  

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families [PDF]

, 2015

core   +1 more source

Prenatal diagnosis and hemodynamic evaluation of Klippel-Trenaunay-Weber syndrome. [PDF]

, 1998
CAPUANO P, D'ARMIENTO, MARIA, LAMBERTI A, LIGUORI M, MARTINELLI, PASQUALE, PALADINI, DARIO, TEODORO A   +6 more
core   +1 more source

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review. [PDF]

J Inherit Metab Dis, 2020
Makhamreh MM, Cottingham N, Ferreira CR, Berger S, Al-Kouatly HB.   +4 more
europepmc   +1 more source

Case Report of Meconium Peritonitis: A Rare Cause of Non-immune Hydrops Fetalis. [PDF]

Cureus
Maddali R, Alvarez-Gell C, Balasundaram P, Sakr M.   +3 more
europepmc   +1 more source

A system-based approach to the genetic etiologies of non-immune hydrops fetalis. [PDF]

Prenat Diagn, 2019
Mardy AH, Chetty SP, Norton ME, Sparks TN.   +3 more
europepmc   +1 more source

Infantile onset Pompe disease presenting with non-immune hydrops fetalis. [PDF]

Mol Genet Metab Rep, 2019
Lee K, Fisher R, Quinonez SC, Ahmad A.
europepmc   +1 more source

Hydrops fetalis não imune por anemia grave: a proposito de três casos clínicos [PDF]

, 2000
Araújo, Filomena, Barbot, José, Costa, Elísio, Costa, Ricardo, Ferreira, Paula, Marcelino, Fernanda, Morais, Lurdes, Proença, Elisa, Soares, Paula   +8 more
core  

Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases. [PDF]

Sci Rep, 2019
Meng D, Li Q, Hu X, Wang L, Tan S, Su J, Zhang Y, Sun W, Chen B, He S, Lin F, Xie B, Chen S, Agrawal PB, Luo S, Fu C.   +15 more
europepmc   +1 more source

Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. [PDF]

Nat Commun, 2019
Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P.   +17 more
europepmc   +1 more source