Works matching IS 03406717 AND DT 2002 AND VI 110 AND IP 3

Results: 11

CIA30 complex I assembly factor: a candidate for human complex I deficiency?

Published in:

Human Genetics, 2002, v. 110, n. 3, p. 264, doi. 10.1007/s00439-001-0673-3

By:

Janssen, Rolf;
Smeitink&, Jan;
Smeets, Roel;
van den Heuvel, Lambert

Publication type:

Article

Proposed guidelines for papers describing DNA polymorphism¿disease associations.

Published in:: Human Genetics, 2002, v. 110, n. 3, p. 207, doi. 10.1007/s00439-001-0672-4
Publication type:: Article

Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.

Published in:

Human Genetics, 2002, v. 110, n. 3, p. 235, doi. 10.1007/s00439-002-0677-7

By:

Kuan-Ju Chen;
Hung-Kun Chao;
Kwang-Jen Hsiao;
Tsung-Sheng Su

Publication type:

Article

Origin and affinities of indigenous Siberian populations as revealed by HLA class II gene frequencies.

Published in:

Human Genetics, 2002, v. 110, n. 3, p. 209, doi. 10.1007/s00439-001-0668-0

By:

Uinuk-ool, Tatiana S.;
Takezaki, Naoko;
Sukernik, Rem I.;
Nagl, Sandra;
Klein, Jan

Publication type:

Article

Variability of X chromosome inactivation: effect on levels of TIMP1 RNA and role of DNA methylation.

Published in:

Human Genetics, 2002, v. 110, n. 3, p. 271, doi. 10.1007/s00439-002-0676-8

By:

Anderson, Catherine L.;
Brown, Carolyn J.

Publication type:

Article

Characterisation of interstitial duplications and triplications of chromosome 15q11–q13.

Published in:

Human Genetics, 2002, v. 110, n. 3, p. 227, doi. 10.1007/s00439-002-0678-6

By:

Roberts, Siân E.;
Dennis, Nicholas R.;
Browne, Caroline E.;
Willatt, Lionel;
Woods, C. Geoffrey;
Cross, Ian;
Jacobs, Patricia A.;
Thomas, N. Simon

Publication type:

Article

A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation.

Published in:

Human Genetics, 2002, v. 110, n. 3, p. 244, doi. 10.1007/s00439-002-0679-5

By:

McMullan, Tristan F. W.;
Crolla, John A.;
Gregory, Simon G.;
Carter, Nigel P.;
Cooper, Rachel A.;
Howell, Gareth R.;
Robinson, David O.

Publication type:

Article

Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.

Published in:

Human Genetics, 2002, v. 110, n. 3, p. 279, doi. 10.1007/s00439-002-0682-x

By:

Leegwater, P. A. J.;
Boor, P. K. I.;
Yuan, B. Q.;
van der Steen, J.;
Visser, A.;
Könst, A. A. M.;
Oudejans, C. B. M.;
Schutgens, R. B. H.;
Pronk, J. C.;
van der Knaap, M. S.

Publication type:

Article

A case of segmental paternal isodisomy of chromosome 14.

Published in:

Human Genetics, 2002, v. 110, n. 3, p. 251, doi. 10.1007/s00439-002-0688-4

By:

Coveler, Karen J.;
Yang, Sam P.;
Sutton, Reid V.;
Milstein, Jay M.;
Yuan-Qing Wu;
Bois, Cami;
Beischel, Linda S.;
Johnson, John P.;
Shaffer, Lisa G.

Publication type:

Article

Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.

Published in:

Human Genetics, 2002, v. 110, n. 3, p. 257, doi. 10.1007/s00439-002-0681-y

By:

Martín, Yolanda;
Valero, Ana;
del Castillo, Emilia;
Pascual, Samuel I.;
Hernández-Chico, Concepción

Publication type:

Article

Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East.

Published in:

Human Genetics, 2002, v. 110, n. 3, p. 284, doi. 10.1007/s00439-001-0674-2

By:

Shahin, Hashem;
Walsh, Tom;
Sobe, Tama;
Lynch, Eric;
King, Mary-Claire;
Avraham, Karen B.;
Kanaan, Moien

Publication type:

Article