biomedicina slovenica

re="Am J Hum Genet" : 12

1. Sergouniotis Panagiotis I; Davidson Alice E; Mackay Dona S; Lenassi Eva
   Biallelic mutations in PLA2G5, encoding group V phospholipase A(2), cause benign fleck retina
   2011 ►
2. D'Adamo Patrizia; Fassone Lucia; Gedeon Agi; Janssen Emiel A
   The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
   1997 ►
3. Orstavik Karen Helene; Orstavik Ragnhild E; Naumova Anna K; D'Adamo Patrizia
   X chromosome inactivation in carriers of Barth syndrome
   1998 ►
4. Meloni Ilaria; Bruttini Mirella; Longo Ilaria; D'Adamo P
   A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
   2000 ►
5. Giannandrea Maila; Bianchi Veronica; Mignogna Maria Lidia; D'Adamo Patrizia
   Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
   2010 ►
6. Guelly Christian; Zhu Peng-Peng; Leonardis Lea; Papić Lea; Zidar Janez
   Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I
   2011 ►
7. Alazami Anas M; Al-Saif Amr; Al-Semari Abdulaziz; Bohlega Saeed; Zlitni Soumaya; Alzahrani Fatema; Bavi Prashant; Kaya Namik; Colak Dilek; Peterlin Borut
   Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
   2008 ►
8. Rossetti Sandro; Strmecki Lana; Gamble Vicki; Burton Sarah; Sneddon Vicky; Peral Belen; Roy Sushmita; Bakkaloglu Aysin; Komel Radovan
   Mutation analysis of the entire PKD1 gene egenetic and diagnostic implications
   2001 ►
9. Rosser Zooe H; Zerjal Tatiana; Hurles Matthew E; Adojaan Maarja; Alavantic Dragan; Amorim Antonio; Amos William; Armenteros Manuel; Arroyo Eduardo; Barbujani Guido; Peterlin Borut
   Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language
   2000 ►
10. Stephens JC; Reich DE; Goldstein DB; Shin HD; Smith MW; Carrington M; Winkler C; Huttley GA; Allikmets R; Glavač D
    Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes.
    1998 ►
11. Neuman HPH; Berger DP; Zaeuner I; Kishida T; Zbar B; Pausch F; Glavač D; Brauch H
    The pheochromocytoma type of von Hippel-Lindau disease (VHL) in the Freiburg VHL study is associated with a point mutation
    1994 ►
12. Brauch H; Glavač D; Pausch F; Masek O; Chen E; Kishida T; Latif F; Lerman MI; Zbar B; Hoefler H; Neuman HPH
    Germline mutation screening and predictive testing in families with von Hippel-Lindau disease
    1994 ►

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