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Showing results for ISSN matching 0340-6717

Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene

JOURNAL ARTICLE published 29 July 1996 in Human Genetics

Authors: O. Windl | Maureen Dempster | J. Peter Estibeiro | Richard Lathe | Rajith de Silva | Thomas Esmonde | Robert Will | Anthea Springbett | Tracy A. Campbell | Katie C. L. Sidle | Mark S. Palmer | J. Collinge

https://doi.org/10.1007/s004390050204 Actions

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli

JOURNAL ARTICLE published April 1991 in Human Genetics

Authors: Niels Gregersen | BrageS. Andresen | Peter Bross | Vibeke Winter | Niels R�diger | Stefan Engst | Ernst Christensen | Daniel Kelly | ArnoldW. Strauss | Steen K�lvraa | Lars Bolund | Sandro Ghisla

https://doi.org/10.1007/bf00201539 Actions

Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts

JOURNAL ARTICLE published August 1992 in Human Genetics

Authors: Ryszard Slomski | Manfred Schloesser | Lutz-Peter Berg | Michael Wagner | VijayV. Kakkar | DavidN. Cooper | Jochen Reiss

https://doi.org/10.1007/bf00221949 Actions

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation

JOURNAL ARTICLE published April 2018 in Human Genetics

Research funded by National Institute of Mental Health (MH089964,MH095458,MH084098) | National Institute on Aging (AG042188,AG021654,AG027734) | National Institute of Diabetes and Digestive and Kidney Diseases (DK062429,DK062422,DK092235) | National Institute of Neurological Disorders and Stroke (NS050487,NS060113) | National Cancer Institute (CA121852) | National Science Foundation (08929882,0845677)

Authors: Todd Lencz | Jin Yu | Cameron Palmer | Shai Carmi | Danny Ben-Avraham | Nir Barzilai | Susan Bressman | Ariel Darvasi | Judy H. Cho | Lorraine N. Clark | Zeynep H. Gümüş | Vijai Joseph | Robert Klein | Steven Lipkin | Kenneth Offit | Harry Ostrer | Laurie J. Ozelius | Inga Peter | Gil Atzmon | Itsik Pe’er

https://doi.org/10.1007/s00439-018-1886-z Actions

The Y chromosomes of the great apes

JOURNAL ARTICLE published May 2017 in Human Genetics

Research funded by Eesti Teadusfondi (PUT1036)

Authors: Pille Hallast | Mark A. Jobling

https://doi.org/10.1007/s00439-017-1769-8 Actions

Defizienz an den kurzen Armen eines Chromosomes Nr. 4

JOURNAL ARTICLE published 1965 in Human Genetics

Authors: U. Wolf | H. Reinwein | Renate Porsch | Renate Schr�ter | H. Baitsch

https://doi.org/10.1007/bf00279119 Actions

Deletion of short arms of chromosome 4?5 in a child with defects of midline fusion

JOURNAL ARTICLE published 1965 in Human Genetics

Authors: Kurt Hirschhorn | HerbertL. Cooper | I.Lester Firschein

https://doi.org/10.1007/bf00279124 Actions

Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective

JOURNAL ARTICLE published July 2013 in Human Genetics

Authors: Jia Nee Foo | Jianjun Liu | Eng-King Tan

https://doi.org/10.1007/s00439-013-1287-2 Actions

Polymorphisms of ethanol-oxidizing enzymes in alcoholics with inactive ALDH2

JOURNAL ARTICLE published April 1996 in Human Genetics

Authors: Susumu Higuchi | Taro Muramatsu | Sachio Matsushita | Masanobu Murayama | Motoi Hayashida

https://doi.org/10.1007/bf02267061 Actions

Stability of X chromosome differentiation in mouse embryos

JOURNAL ARTICLE published 1976 in Human Genetics

Authors: Nobuo Takagi

https://doi.org/10.1007/bf00278890 Actions

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation

JOURNAL ARTICLE published January 2000 in Human Genetics

Authors: M.J. Friez | F.B. Essop | A. Krause | L. Castiglia | A. Ragusa | K. Sossey-Alaoui | R.L. Nelson | M.M. May | R.C. Michaelis | A.K. Srivastava | C.E. Schwartz | R.E. Stevenson | A. Goldman | L. Villard | J.W. Longshore

https://doi.org/10.1007/s004399900202 Actions

Hereditary recombined three-allele variant of the Gc system

JOURNAL ARTICLE published March 1993 in Human Genetics

Authors: S. Kubo | O. Kitamura | R. Tsuda | W. Hirose | H. Matsumoto | I. Nakasono

https://doi.org/10.1007/bf00230226 Actions

First announcement

JOURNAL ARTICLE published May 1982 in Human Genetics

https://doi.org/10.1007/bf00303030 Actions

Blood cell pyruvate kinase activity in translocation Down's syndrome

JOURNAL ARTICLE published 1969 in Human Genetics

Authors: Robert S. Sparkes | Marjorie A. Baughan

https://doi.org/10.1007/bf00273176 Actions

David Bainbridge (Editor), The X in sex: how the X chromosome controls our lives

JOURNAL ARTICLE published 1 January 2004 in Human Genetics

Authors: Andrew P. Read

https://doi.org/10.1007/s00439-003-1052-z Actions

Critique of “Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension” by Rutherford et al., Human Genetics, published online September 2001

JOURNAL ARTICLE published January 2002 in Human Genetics

Authors: Brian J. Morris

https://doi.org/10.1007/s00439-001-0641-y Actions

Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt

JOURNAL ARTICLE published 30 May 1996 in Human Genetics

Authors: Nemat Hashem | Paolo Bosco | Valeria Chiavetta | Francesco Calì | Nadia Ceratto | V. Romano

https://doi.org/10.1007/s004390050150 Actions

Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5

JOURNAL ARTICLE published March 2015 in Human Genetics

Authors: Daniella Magen | Ayala Ofir | Liron Berger | Dorit Goldsher | Ayelet Eran | Nasser Katib | Yousif Nijem | Euvgeni Vlodavsky | Shay Tzur | Doron M. Behar | Yakov Fellig | Hanna Mandel

https://doi.org/10.1007/s00439-015-1530-0 Actions

The metabolism of tolbutamide and cyclamate

JOURNAL ARTICLE published 1970 in Humangenetik

Authors: Peter Glogner

https://doi.org/10.1007/bf00279227 Actions

Un cas de mosa�cisme avec grand chromosome surnum�raire

JOURNAL ARTICLE published 1966 in Human Genetics

Authors: A. Hausman-Hagemeijer | J. Frederic | P. Dodinval

https://doi.org/10.1007/bf00285910 Actions
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