✦ LIBER ✦

Prenatal ultrasound diagnosis of Roberts syndrome in a family with negative history

✍ Scribed by Dr D. Paladini; S. Palmieri; M. Lecora; L. Perone; A. Di Meglio; M. D'Armiento; C. Cascioli; P. Martinelli

Book ID: 114433361
Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 381 KB
Volume: 7
Category: Article
ISSN: 0960-7692
DOI: 10.1046/j.1469-0705.1996.07030208.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prenatal diagnosis history of a Li-Fraum

Prenatal diagnosis history of a Li-Fraumeni syndrome family

✍ Sefik Güran; Yusuf Tunca 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 116 KB

Prenatal diagnosis of Sanfilippo type A

Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele

✍ Paola Di Natale; Guglielmo R. D. Villani; Sabrina Esposito; Nicola Balzano; Mire 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 133 KB 👁 1 views

First prenatal diagnosis by mutation ana

First prenatal diagnosis by mutation analysis in a family with Sjögren–Larsson syndrome

✍ A. Sillén; G. Holmgren; C. Wadelius 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 1 views

Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disorder has the highest incidence in the north of Sweden and most of the cases are caused by a C943T mutation in the FALDH gene

P17.10: Prenatal ultrasound diagnosis of

P17.10: Prenatal ultrasound diagnosis of lissencephaly associated with Miller-Dieker syndrome: a case report

✍ M. Debska; P. Kretowicz; K. Muzyka; J. H. Dangel; R. Debski 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB

Prenatal ultrasound diagnosis of a rare

Prenatal ultrasound diagnosis of a rare occurrence of lethal multiple pterygium syndrome in two siblings

✍ Dr I. Meizner; R. Hershkovitz; R. Carmi; M. Katz 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 803 KB

PTPN11 analysis for the prenatal diagnos

PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

✍ KA Lee; B Williams; K Roza; H Ferguson; K David; K Eddleman; J Stone; L Edelmann 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 91 KB