Поисковый запрос: (<.>A=Cormier-Daire, Valerie$<.>) |
Общее количество найденных документов : 10
Показаны документы с 1 по 10
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1.
| Chloride channel 7 (CLCN7) gene mutations inintermediate autosomal recessive osteopetrosis // Hum. Genet., 2003. Vol. 112, N 2.-С.186-189
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2.
| Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern // Clin. Chem., 2001. Vol. 47, N 1.-С.132-134
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3.
| Clinical and molecular variability in congenital dyserythropoietic anaemia type I // Brit. J. Haematol., 2005. Vol. 130, N 4.-С.628-634
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| Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease) // Prenat. Diagn., 2009. Vol. 29, N 9.-С.892-894
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5.
| Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease) // Prenat. Diagn., 2009. Vol. 29, N 9.-С.892-894
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6.
| "Baby rattle" pelvis dysplasia // Amer. J. Med. Genet., 2001. Vol. 100, N 1.-С.37-42
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| Temporal bone anomaly proposed as a major criteria fro diagnosis of CHARGE syndrome // Amer. J. Med. Genet., 2001. Vol. 99, N 2.-С.124-127
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| Oto-palato-digital syndrome, type II: Report of three cases with further delineation of the chondro-osseous morphology // Amer. J. Med. Genet., 2000. Vol. 95, N 3.-С.193-200
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9.
| Cormier-Daire Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome) // Amer. J. Med. Genet., 2001. Vol. 106, N 4.-С.272-274
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10.
| Neurological presentation of a congenital disorder of glycosylation CDG-Ia. Implications for diagnosis and genetic counseling // Amer. J. Med. Genet., 2001. Vol. 101, N 1.-С.46-49
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