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American Journal of Medical Genetics. Part A|April 23, 2004
A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findingsMaría A Mori, Pablo Lapunzina, Alicia Delicado, et al.American Journal of Medical Genetics. Part A|April 27, 2004
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndromeS M White, E M Thompson, A Kidd, et al.American Journal of Medical Genetics. Part A|April 27, 2004
Natural history of twin disruption sequenceAndreas Zankl, Daniela Brooks, Eugen Boltshauser, et al.American Journal of Medical Genetics. Part A|April 27, 2004
Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosisPaolo Guanciali-Franchi, Giuseppe Calabrese, Elisena Morizio, et al.American Journal of Medical Genetics. Part A|April 27, 2004
Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibshipsAaltje Schram, Hester Y Kroes, Krystyna Sollie, et al.American Journal of Medical Genetics. Part A|October 14, 2005
Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)Susanne Zahn, Antje Ehrbrecht, Kristin Bosse, et al.American Journal of Medical Genetics. Part A|October 14, 2005
Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populationsMasashi Watanabe, Kazuhiro Kobayashi, Feng Jin, et al.American Journal of Medical Genetics. Part A|December 15, 2005
Fetal alcohol spectrum disorders in Finland: clinical delineation of 77 older children and adolescentsIlona Autti-Rämö, Ase Fagerlund, Nina Ervalahti, et al.American Journal of Medical Genetics. Part A|October 20, 2009
Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?Reeval Segel, Ephrat Levy-Lahad, Francesca Pasutto, et al.American Journal of Medical Genetics. Part A|October 20, 2009
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simpleAlberto Casarin, Francesca Rusalen, Mara Doimo, et al.Pageof 929