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Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|July 20, 2007
Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotypeThomas Aigner, Tilman Rau, Manuel Niederhagen, et al.European Journal of Medical Genetics|July 23, 2011
Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrumDiana Zahnleiter, Udo Trautmann, Arif B Ekici, et al.American Journal of Medical Genetics. Part A|September 18, 2009
Genomic duplication of PTPN11 is an uncommon cause of Noonan syndromeJohn M Graham, Nancy Kramer, Bassem A Bejjani, et al.Journal of Computer Assisted Tomography|May 1, 1997
Boeck sarcoidosis of the breast: mammographic, ultrasound, and MR findingsP P Kenzel, J Hadijuana, N Hosten, et al.American Journal of Medical Genetics. Part A|December 15, 2018
A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblingsMoritz Hebebrand, Georgia Vasileiou, Mandy Krumbiegel, et al.European Journal of Medical Genetics|December 18, 2020
Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorderKatalin L M L Hetzelt, Frank Kerling, Cornelia Kraus, et al.Magnetic Resonance in Medicine|September 25, 2004
Efficient high-frequency body coil for high-field MRIJ T Vaughan, G Adriany, C J Snyder, et al.Molecular Genetics and Metabolism|April 16, 2008
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndromeChristian T Thiel, Birgit Knebel, Ina Knerr, et al.European Journal of Medical Genetics|April 25, 2008
A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delayChristian T Thiel, Helmuth-Günther Dörr, Udo Trautmann, et al.European Journal of Medical Genetics|February 7, 2018
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndromeLuitgard M Graul-Neumann, Martin A Mensah, Eva Klopocki, et al.Pageof 14