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Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health. [electronic resource] by
- Merkens, Louise S
- Wassif, Christopher
- Healy, Kristy
- Pappu, Anuradha S
- DeBarber, Andrea E
- Penfield, Jennifer A
- Lindsay, Rebecca A
- Roullet, Jean-Baptiste
- Porter, Forbes D
- Steiner, Robert D
Producer: 20090810
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 11
Availability: No items available.
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25.
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Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment. [electronic resource] by
- DeBarber, Andrea E
- Kalfon, Limor
- Fedida, Ayalla
- Fleisher Sheffer, Vered
- Ben Haroush, Shani
- Chasnyk, Natalia
- Shuster Biton, Efrat
- Mandel, Hanna
- Jeffries, Krystal
- Shinwell, Eric S
- Falik-Zaccai, Tzipora C
Producer: 20190902
In:
Journal of lipid research vol. 59
Availability: No items available.
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26.
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Unique mechanism of action of the thiourea drug isoxyl on Mycobacterium tuberculosis. [electronic resource] by
- Phetsuksiri, Benjawan
- Jackson, Mary
- Scherman, Hataichanok
- McNeil, Michael
- Besra, Gurdyal S
- Baulard, Alain R
- Slayden, Richard A
- DeBarber, Andrea E
- Barry, Clifton E
- Baird, Mark S
- Crick, Dean C
- Brennan, Patrick J
Producer: 20040210
In:
The Journal of biological chemistry vol. 278
Availability: No items available.
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27.
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Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis. [electronic resource] by
- Duell, P Barton
- Salen, Gerald
- Eichler, Florian S
- DeBarber, Andrea E
- Connor, Sonja L
- Casaday, Lise
- Jayadev, Suman
- Kisanuki, Yasushi
- Lekprasert, Patamaporn
- Malloy, Mary J
- Ramdhani, Ritesh A
- Ziajka, Paul E
- Quinn, Joseph F
- Su, Kimmy G
- Geller, Andrew S
- Diffenderfer, Margaret R
- Schaefer, Ernst J
Producer: 20191007
In:
Journal of clinical lipidology vol. 12
Availability: No items available.
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28.
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Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. [electronic resource] by
- McLarren, Keith W
- Severson, Tesa M
- du Souich, Christèle
- Stockton, David W
- Kratz, Lisa E
- Cunningham, David
- Hendson, Glenda
- Morin, Ryan D
- Wu, Diane
- Paul, Jessica E
- An, Jianghong
- Nelson, Tanya N
- Chou, Athena
- DeBarber, Andrea E
- Merkens, Louise S
- Michaud, Jacques L
- Waters, Paula J
- Yin, Jingyi
- McGillivray, Barbara
- Demos, Michelle
- Rouleau, Guy A
- Grzeschik, Karl-Heinz
- Smith, Raffaella
- Tarpey, Patrick S
- Shears, Debbie
- Schwartz, Charles E
- Gecz, Jozef
- Stratton, Michael R
- Arbour, Laura
- Hurlburt, Jane
- Van Allen, Margot I
- Herman, Gail E
- Zhao, Yongjun
- Moore, Richard
- Kelley, Richard I
- Jones, Steven J M
- Steiner, Robert D
- Raymond, F Lucy
- Marra, Marco A
- Boerkoel, Cornelius F
Producer: 20110118
In:
American journal of human genetics vol. 87
Availability: No items available.
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