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American Journal of Medical Genetics. Part A|July 2, 2003
Brachyolmia and spinal stenosisMasza Mukamel, Boaz Karmazyn, Liat de Vries, et al.American Journal of Medical Genetics. Part A|April 23, 2003
Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS)Diana Baralle, Chris Mattocks, Kamini Kalidas, et al.American Journal of Medical Genetics. Part A|April 23, 2003
X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patientsElena Pegoraro, Andrea Vettori, Maria L Valentino, et al.American Journal of Medical Genetics. Part A|April 23, 2003
Macrodystrophia lipomatosa of the feet and subcutaneous lipomasS E Aydos, S Fitoz, I BökesoyAmerican Journal of Medical Genetics. Part A|November 16, 2019
Blood pressure in adults with short stature skeletal dysplasiasJulie Hoover-Fong, Adekemi Yewande Alade, Michael Ain, et al.American Journal of Medical Genetics. Part A|November 16, 2019
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case studyErin K Bojanek, Matthew W Mosconi, Stephen Guter, et al.American Journal of Medical Genetics. Part A|November 5, 2019
Sleep-disordered breathing in children with pycnodysostosisSonia Khirani, Alessandro Amaddeo, Geneviève Baujat, et al.American Journal of Medical Genetics. Part A|November 8, 2019
NRAS associated RASopathy and embryonal rhabdomyosarcomaBenjamin Garren, Mark Stephan, Jacob S HogueAmerican Journal of Medical Genetics. Part A|February 12, 2019
Congenital clubfoot in Europe: A population-based studyHao Wang, Ingeborg Barisic, Maria Loane, et al.American Journal of Medical Genetics. Part A|February 12, 2019
Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasiaVinod Dasa, James R B Eastwood, Michal Podgorski, et al.Pageof 928