-
Robert J.
Desnick is an
American human geneticist whose basic and
translational research accomplishments include significant discoveries in genomics,...
- 1016/S0163-4453(05)80037-4. PMID 1602151.
Astrin KH, Kaya AH,
Wetmur JG,
Desnick RJ (August 1991). "RsaI
polymorphism in the
human delta-aminolevulinate...
- C, Martinez-Bermejo A,
Naidich TP,
Kaufmann WE,
Astrin KH,
Bishop DF,
Desnick RJ (November 2004). "Acute
intermittent porphyria:
studies of the severe...
- ISBN 978-0-07-913035-8.
Calhoun DH,
Bishop DF,
Bernstein HS,
Quinn M,
Hantzopoulos P,
Desnick RJ (November 1985). "Fabry disease:
isolation of a cDNA
clone encoding...
- 1233–8. doi:10.1515/bchm3.1992.373.2.1233. PMID 1292508.
Takahashi T,
Desnick RJ,
Takada G,
Schuchman EH (1993). "Identification of a
missense mutation...
-
Miranda CS,
Amaral O,
Maire I,
Poenaru L,
Caillaud C,
Weizberg M,
Mistry P,
Desnick RJ (June 2000). "Gaucher disease: the
origins of the Ashke****
Jewish N370S...
- 0b013e3181836b4c. PMID 19088546.
McGovern MM,
Lippa N,
Bagiella E,
Schuchman EH,
Desnick RJ, W****erstein MP (August 2013). "Morbidity and
mortality in type B Niemann-Pick...
- Tümer, L.; Cakmak, A.; Nazarenko, I.; Yu, C.; Clavero, S.; Bishop, D. F.;
Desnick, R. J. (2010). "Harderoporphyria due to
homozygosity for coproporphyrinogen...
- 0b013e3181836b4c. PMID 19088546.
McGovern MM,
Lippa N,
Bagiella E,
Schuchman EH,
Desnick RJ, W****erstein MP.
Morbidity and
mortality in type B Niemann-Pick disease...
-
Anderson KE,
Bloomer JR,
Bonkovsky HL,
Kushner JP,
Pierach CA,
Pimstone NR,
Desnick RJ (2005). "Recommendations for the
diagnosis and
treatment of the acute...
