Search Results

Verkürzung aller fetalen Röhrenknochen

Author: Bolkenius, P.

Source: Der Gynäkologe, Volume 42, Number 1, January 2009 , pp. 50-54(5)

Publisher: Springer

Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndrome

Authors: Vermeiren, Annelies; Zarowski, Andrzej; Fryns, Jean-Pierre; Vanpoucke, Filiep; Somers, Thomas; Offeciers, Erwin

Source: Acta Oto-Laryngologica, Volume 128, Number 7, 2008 , pp. 814-820(7)

Publisher: Informa Healthcare

Phenotypic diagnosis of dwarfism in six Friesian horses

Authors: Back, W.; van der Lugt, J. J.; Nikkels, P.G.J.; van den Belt, A. J. M.; van der Kolk, J. H.; Stout, T.A.E.

Source: Equine Veterinary Journal, Volume 40, Number 3, May 2008 , pp. 282-287(6)

Publisher: Equine Veterinary Journal Ltd.

Metatropic dysplasia lethal variants

Authors: Hall, Christine; Elçioglu, Nursel

Source: Pediatric Radiology, Volume 34, Number 1, January 2004 , pp. 66-74(9)

Publisher: Springer

PALLIATIVE IRRADIATION OF SCOTTISH FOLD OSTEOCHONDRODYSPLASIA

Authors: Madeleine Hubler; Mathias Volkert; Barbara Kaser-Hotz; Susi Arnold

Source: Veterinary Radiology & Ultrasound, Volume 45, Number 6, November 2004 , pp. 582-585(4)

Publisher: Blackwell Publishing

Article
Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia

Authors: Sock E.; Pagon R.A.; Keymolen K.; Lissens W.; Wegner M.; Scherer G.

Source: Human Molecular Genetics, Volume 12, Number 12, 15 June 2003 , pp. 1439-1447(9)

Publisher: Oxford University Press

Craniometaphyseal dysplasia: a case report and review of medical and surgical management

Authors: Sheppard W.M.; Shprintzen R.J.; Tatum S.A.; Woods C.I.

Source: International Journal of Pediatric Otorhinolaryngology, Volume 67, Number 1, January 2003 , pp. 71-77(7)

Publisher: Elsevier

Early prenatal sonographic diagnosis and follow-up of Jeune syndrome

Authors: Den Hollander, N. S.; Robben, S. G. F.; Hoogeboom, A. J. M.; Niermeijer, M. F.; Wladimiroff, J. W.

Source: Ultrasound in Obstetrics & Gynecology, Volume 18, Number 4, October 2001 , pp. 378-383(6)

Publisher: Blackwell Publishing

Congenital skeletal abnormalities: an introduction to the radiological semiology

Authors: Vanhoenacker F.M.; Van Hul W.; Gielen J.; De Schepper A.M.

Source: European Journal of Radiology, Volume 40, Number 3, December 2001 , pp. 168-183(16)

Publisher: Elsevier

Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects

Authors: Genest D.R.; Perez-Atayde A.R.; Ward C.J.; Pritchard L.; Harris P.C.; Lu W.; Shen X.; Pavlova A.; Lakkis M.; Zhou J.

Source: Human Molecular Genetics, Volume 10, Number 21, 1 October 2001 , pp. 2385-2396(12)

Publisher: Oxford University Press

ADDITIONAL EVIDENCE OF A CONTINUOUS PHENOTYPIC SPECTRUM IN THE SHORT RIB-POLYDACTYLY SYNDROMES

Authors: Blanco, M.E.; Valdes, J.M.; Kofman-Alfaro, S.; Zenteno, J.C.; Cabrera, M.L.

Source: Pediatric Pathology & Molecular Medicine, Volume 18, Number 2, 1 March 1998 , pp. 143-150(8)

Publisher: Informa Healthcare

KNIEST DYSPLASIA: CLINICAL, PATHOLOGIC, AND MOLECULAR FINDINGS IN A SEVERELY AFFECTED PATIENT - AND REVIEW OF THE LITERATURE

Authors: Faber, J.; Winterpacht, A.; Zabel, B.; Eich, G.; Spycher, M.A.; Briner, J.; Giunta, C.; Superti-Furga, A.; Steinmann, B.

Source: Pediatric Pathology & Molecular Medicine, Volume 18, Number 3, 1 May 1998 , pp. 187-206(20)

Publisher: Informa Healthcare

Structure and Chromosomal Assignment of the Human Cathepsin K Gene

Authors: Gelb B.D.; Shi G.P.; Heller M.; Weremowicz S.; Morton C.; Desnick R.J.; Chapman H.A.

Source: Genomics, Volume 41, Number 2, April 1997 , pp. 258-262(5)

Publisher: Academic Press

Campomelic syndrome--laryngotracheomalacia treated with single-stage laryngotracheal reconstruction

Authors: Ruan L.; Mitchell R.B.; Pereira K.D.; Younis R.T.; Lazar R.H.

Source: International Journal of Pediatric Otorhinolaryngology, Volume 37, Number 3, November 1996 , pp. 277-281(5)

Publisher: Elsevier