Surgical diagnostic tests

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
Curt Scharfe, Michael Hauschild, Thomas Klopstock, Antoon J M Janssen, Peter H Heidemann, Thomas Meitinger, Michaela Jaksch

Journal of Medical Genetics Sep 2000, 37 (9) 669-673; DOI: 10.1136/jmg.37.9.669
A syndrome of immune complex glomerulonephritis and ophthalmic abnormalities
Iradj Amirlak, Sharda G Sabnis, Lihadh Al-Gazali, Yousef M Abdulrazzaq

Journal of Medical Genetics Aug 1999, 36 (8) 641-644; DOI: 10.1136/jmg.36.8.641
Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria
Pekka Arvio, Maria Arvio, Matti Kero, Sinikka Pirinen, Pirjo-Liisa Lukinmaa

Journal of Medical Genetics May 1999, 36 (5) 398-404; DOI: 10.1136/jmg.36.5.398
Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families
Virginia Barone, Ornella Massa, Elena Intravaia, Adele Bracco, Antonella Di Martino, Vincenzo Tegazzin, Santolo Cozzolino, Vincenzo Sorrentino

Journal of Medical Genetics Feb 1999, 36 (2) 115-118; DOI: 10.1136/jmg.36.2.115
Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism
Clare M Conn, Jean Cozzi, Joyce C Harper, Robert M L Winston, Joy D A Delhanty

Journal of Medical Genetics Jan 1999, 36 (1) 45-50; DOI: 10.1136/jmg.36.1.45

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