✦ LIBER ✦

Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene

✍ Scribed by Salerno, Teresa; Peca, Donatella; Menchini, Laura; Schiavino, Alessandra; Petreschi, Francesca; Occasi, Francesca; Cogo, Paola; Danhaive, Olivier; Cutrera, Renato

Book ID: 126172496
Publisher: John Wiley and Sons
Year: 2013
Tongue: English
Weight: 153 KB
Volume: 49
Category: Article
ISSN: 8755-6863
DOI: 10.1002/ppul.22788

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A new mutation of IGHMBP2 gene in spinal

A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1

✍ Nobutada Tachi; Sin Kikuchi; Naoki Kozuka; Azusa Nogami 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 208 KB

Molecular Genetics of a Patient with Moh

Molecular Genetics of a Patient with Mohr–Tranebjaerg Syndrome due to a New Mutation in the DDP1 Gene

✍ José Rafael Blesa; Abelardo Solano; Paz Briones; Jesús Angel Prieto-Ruiz; José H 📂 Article 📅 2007 🏛 Humana Press Inc 🌐 English ⚖ 286 KB

A New Mutation in the Promoter Region of

A New Mutation in the Promoter Region of the PAX8 Gene Causes True Congenital Hypothyroidism with Thyroid Hypoplasia in a Girl with Down's Syndrome

✍ Hermanns, Pia; Shepherd, Scott; Mansor, Mohamed; Schulga, John; Jones, Jez; Dona 📂 Article 📅 2014 🏛 Mary Ann Liebert 🌐 English ⚖ 143 KB

Severe MDC1A Congenital Muscular Dystrop

Severe MDC1A Congenital Muscular Dystrophy Due to a Splicing Mutation in the LAMA2 Gene Resulting in Exon Skipping and Significant Decrease of mRNA Level

✍ Siala, Olfa; Louhichi, Nacim; Triki, Chahnez; Morinière, Madeleine; Rebai, Ahmed 📂 Article 📅 2007 🏛 Mary Ann Liebert 🌐 English ⚖ 560 KB

P3.41. Clinical and genetic findings in

P3.41. Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

✍ A. Klein; S. Lillis; I. Oprea; M. Scoto; S. Robb; A. Manzur; V. Straub; H. Roper 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 49 KB

Inappropriate tall stature and renal ect

Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene

✍ Adriana Franzese; Nicola Brunetti-Pierri; Raffaella Spadaro; Tokuo Mukai; Giulia 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 54 KB 👁 2 views