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American Journal of Medical Genetics|December 18, 1996
Total anonychia congenita and microcephaly with normal intelligence: a new autosomal-recessive syndrome?A S Teebi, P Kaurah
American Journal of Medical Genetics|December 18, 1996
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?G Corsello, A Albanese, M Piccione, et al.
American Journal of Medical Genetics|December 18, 1996
Clinical and roentgenographic findings in a patient with primordial microcephalic dwarfism type Caroline CrachamiB Boscherini, F Colabucci, C Galasso, et al.
American Journal of Medical Genetics|December 18, 1996
Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutationM J Ahrens, S A Berry, C B Whitley, et al.
American Journal of Medical Genetics|January 10, 1997
Bronchopulmonary-foregut malformations: a continuum of paracrine hamartomas?B G Kousseff, E Gilbert-Barness, D Debich-Spicer
American Journal of Medical Genetics|January 10, 1997
Genetic testing for breast cancer susceptibility: awareness and interest among women in the general populationE S Tambor, B K Rimer, T S Strigo
American Journal of Medical Genetics|January 10, 1997
Mosaic partial trisomy 17 due to a ring chromosome identified by fluorescence in situ hybridisationP J Morrison, N M Smith, K E Martin, et al.
American Journal of Medical Genetics|January 10, 1997
Diagnosis of Fanconi anemia in patients without congenital malformations: an international Fanconi Anemia Registry StudyP F Giampietro, P C Verlander, J G Davis, et al.
American Journal of Medical Genetics|January 10, 1997
Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriersA McConkie-Rosell, G A Spiridigliozzi, T Iafolla, et al.
American Journal of Medical Genetics|January 10, 1997
A paternally derived inverted duplication of 7q with evidence of a telomeric deletionG Stetten, L L Charity, L M Kasch, et al.
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