Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency
Krakowiak, Patrycja A., Wassif, Christopher A., Kratz, Lisa, Cozma, Diana, Kovářová, Martina, Harris, Ginny, Grinberg, Alexander, Yang, Yinzi, Hunter, Alasdair G.W., Tsokos, Maria, Kelley, Richard I., Porter, Forbes D.
Published in Human molecular genetics (01.07.2003)
Published in Human molecular genetics (01.07.2003)
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Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
Bamshad, Michael, Lin, Robert C, Law, David J, Watkins, W. Scott, Krakowiak, Patrycja A, Moore, Mary E, Franceschini, Piergiorgio, Lala, Roberto, Holmes, Lewis B, Gebuhr, Tom C, Bruneau, Benoit G, Schinzel, Albert, Seidman, J. G, Seidman, Christine E, Jorde, Lynn B
Published in Nature genetics (01.07.1997)
Published in Nature genetics (01.07.1997)
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Congenital heart defects and genetic variants in the methylenetetrahydroflate reductase gene
Hobbs, C A, James, S J, Parsian, A, Krakowiak, P A, Jernigan, S, Greenhaw, J J, Lu, Y, Cleves, M A
Published in Journal of medical genetics (01.02.2006)
Published in Journal of medical genetics (01.02.2006)
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Origins and affinities of modern humans : a comparison of mitochondrial and nuclear genetic data
JORDE, L. B, BAMSHAD, M. J, WATKINS, W. S, ZENGER, R, FRALEY, A. E, KRAKOWIAK, P. A, CARPENTER, K. D, SOODYALL, H, JENKINS, T, ROGERS, A. R
Published in American journal of human genetics (01.09.1995)
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Published in American journal of human genetics (01.09.1995)
Journal Article
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome
Correa-Cerro, L S, Wassif, C A, Waye, J S, Krakowiak, P A, Cozma, D, Dobson, N R, Levin, S W, Anadiotis, G, Steiner, R D, Krajewska-Walasek, M, Nowaczyk, M J M, Porter, F D
Published in Journal of medical genetics (01.04.2005)
Published in Journal of medical genetics (01.04.2005)
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Journal Article
A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter
KRAKOWIAK, P. A, O'QUINN, J. R, BOHNSACK, J. F, WATKINS, W. S, CAREY, J. C, JORDE, L. B, BAMSHAD, M
Published in American journal of human genetics (01.02.1997)
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Published in American journal of human genetics (01.02.1997)
Journal Article
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis
Beachy, Philip A, Cooper, Michael K, Wassif, Christopher A, Krakowiak, Patrycja A, Taipale, Jussi, Gong, Ruoyu, Kelley, Richard I, Porter, Forbes D
Published in Nature genetics (01.04.2003)
Published in Nature genetics (01.04.2003)
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A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9
BAMSHAD, M, WATSKINS, W. S, ZENGER, R. K, BOHNSACK, J. F, CAREY, J. C, OTTERUD, B, KRAKOWIAK, P. A, ROBERTSON, M, JORDE, L. B
Published in American journal of human genetics (01.12.1994)
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Published in American journal of human genetics (01.12.1994)
Journal Article
Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes
Sung, Sandy S., Brassington, Anna-Marie E., Grannatt, Kathryn, Rutherford, Ann, Whitby, Frank G., Krakowiak, Patrycja A., Jorde, Lynn B., Carey, John C., Bamshad, Mike
Published in American journal of human genetics (01.03.2003)
Published in American journal of human genetics (01.03.2003)
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Journal Article
A gene for ulnar-mammary syndrome maps to 12q23-q24.1
Bamshad, M, Krakowiak, P A, Watkins, W S, Root, S, Carey, J C, Jorde, L B
Published in Human molecular genetics (01.10.1995)
Published in Human molecular genetics (01.10.1995)
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Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome
WASSLF, Christopher A, PINJUN ZHU, STEWART, Randall R, PORTER, Forbes D, KRATZ, Lisa, KRAKOWIAK, Patrycja A, BATTAILE, Kevin P, WEIGHT, Forrest F, GRINBERG, Alexander, STEINER, Robert D, NWOKORO, Ngozi A, KELLEY, Richard I
Published in Human molecular genetics (15.03.2001)
Published in Human molecular genetics (15.03.2001)
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Journal Article
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis
Cooper, M K, Wassif, C A, Krakowiak, P A, Taipale, J, Gong, R, Kelley, R I, Porter, F D, Beachy, P A
Published in Nature genetics (01.05.2003)
Published in Nature genetics (01.05.2003)
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Journal Article
Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)
Krakowiak, P A, Bohnsack, J F, Carey, J C, Bamshad, M
Published in American journal of medical genetics (26.02.1998)
Published in American journal of medical genetics (26.02.1998)
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Journal Article
A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome
Toydemir, Reha M., Brassington, Anna E., Bayrak-Toydemir, Pınar, Krakowiak, Patrycja A., Jorde, Lynn B., Whitby, Frank G., Longo, Nicola, Viskochil, David H., Carey, John C., Bamshad, Michael J.
Published in American journal of human genetics (01.11.2006)
Published in American journal of human genetics (01.11.2006)
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The most convenient method for the preparation of aliphatic cryptands
Krakowiak, Krzysztof E., Krakowiak, Patrycja A., Bradshaw, Jerald S.
Published in Tetrahedron letters (29.01.1993)
Published in Tetrahedron letters (29.01.1993)
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Journal Article
Mutations in TNNT3 Cause Multiple Congenital Contractures: A Second Locus for Distal Arthrogryposis Type 2B
Sung, Sandy S., Brassington, Anna-Marie E., Krakowiak, Patrycja A., Carey, John C., Jorde, Lynn B., Bamshad, Michael
Published in American journal of human genetics (01.07.2003)
Published in American journal of human genetics (01.07.2003)
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Journal Article
Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype
Nowaczyk, M J, Farrell, S A, Sirkin, W L, Velsher, L, Krakowiak, P A, Waye, J S, Porter, F D
Published in American journal of medical genetics (15.09.2001)
Published in American journal of medical genetics (15.09.2001)
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Journal Article
Corrigendum: A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis
Cooper, M K, Wassif, C A, Krakowiak, P A, Taipale, J, Gong, R, Kelley, R I, Porter, F D, Beachy, P A
Published in Nature genetics (01.05.2003)
Published in Nature genetics (01.05.2003)
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