✦ LIBER ✦

Prenatal diagnosis of hypoparathyroidism retardation and dysmorphism (HRD) syndrome

✍ Scribed by Eli Hershkovitz; Reli Hershkovitz; Lora Hertzug; Rafael Gorodischer; Moshe Mazor; Ruti Parvari

Book ID: 101334817
Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 58 KB
Volume: 20
Category: Article
ISSN: 0197-3851
DOI: 10.1002/1097-0223(200006)20:6<475::aid-pd856>3.0.co;2-z

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Hypoparathyroidism–retardation–dysmorphi

Hypoparathyroidism–retardation–dysmorphism (HRD) syndrome in triplets

✍ Khalil Al Tawil; Adnan Shataiwi; Angham Mutair; Wafa Eyaid; Saif Al Saif 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB

Mutation of TBCE causes hypoparathyroidi

Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome

✍ Parvari, Ruti; Hershkovitz, Eli; Grossman, Nili; Gorodischer, Rafael; Loeys, Bar 📂 Article 📅 2002 🏛 Nature Publishing Group 🌐 English ⚖ 758 KB

Prenatal diagnosis of dysmorphic syndrom

Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across Europe

✍ C. Stoll; M. Clementi 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 92 KB

Hypoparathyroidism and facial dysmorphis

Hypoparathyroidism and facial dysmorphism as main symptoms of 22q.11 deletion syndrome

✍ Hideto Yoshikawa; Tokinari Abe 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 116 KB

Hypoparathyroidism-retardation-dysmorphi

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation—clinical report and review

✍ Winnie Courtens; Wim Wuyts; Martin Poot; Karoly Szuhai; Jan Wauters; Edwin Reyni 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 155 KB 👁 2 views

Homozygosity and Linkage-Disequilibrium

Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a 1-cM Interval on Chromosome 1q42-43

✍ Ruti Parvari; Eli Hershkovitz; Adam Kanis; Rafael Gorodischer; Shlomit Shalitin; 📂 Article 📅 1998 🏛 American Society of Human Genetics 🌐 English ⚖ 133 KB