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Showing results for ISSN matching 0340-6717

Louanne Hudgins, Helga V. Toriello, Gregory M. Enns and H. Eugene Hoyme (eds): Signs and Symptoms of Genetic Conditions, a Handbook

JOURNAL ARTICLE published September 2015 in Human Genetics

Authors: Ian Tully

https://doi.org/10.1007/s00439-015-1588-8 Actions

A recombinant Friedreich's ataxia family

JOURNAL ARTICLE published April 1993 in Human Genetics

Authors: G. Lucotte | S. Berriche | J.C. Turpin

https://doi.org/10.1007/bf00218270 Actions

No evidence for linkage of long QT syndrome and chromosome 11p15.5 markers in a Chinese family: evidence for genetic heterogeneity

JOURNAL ARTICLE published October 1994 in Human Genetics

Authors: Yu-Lin Ko | Shih-Ann Chen | TangK. Tang | Jiunn-Lee Lin | Chern-En Chiang | Jin-Jer Chen | Ming-Sheng Teng | Mau-Song Chang | Wen-Pin Lien | Cheng-Wen Wu

https://doi.org/10.1007/bf00201594 Actions

Transspecific variability of phosphohexose isomerase (E. C.: 5. 3. 1. 9) in primates

JOURNAL ARTICLE published 1971 in Human Genetics

Authors: G. Tariverdian | H. Ritter | J. Schmitt

https://doi.org/10.1007/bf00291465 Actions

Chromosomenmosaik 46,XY,D-,t(DqGq)+/92,XYXY,2D-,2t(DqGq)+ bei einem S�ugling mit Down-Syndrom

JOURNAL ARTICLE published 1973 in Human Genetics

Authors: H. Waller | M. Waller

https://doi.org/10.1007/bf00277905 Actions

AB0-Blutgruppen bei rheumatischem Fieber und rheumatischer Karditis

JOURNAL ARTICLE published 1967 in Human Genetics

Authors: S. Zih | A. Thoma

https://doi.org/10.1007/bf00279178 Actions

The human microbiome and genetic disease: towards the integration of metagenomic and multi-omics data

JOURNAL ARTICLE published May 2021 in Human Genetics

Authors: Huiying Zhao

https://doi.org/10.1007/s00439-021-02277-0 Actions

Parental mean ages and birth order in different types of congenital heart defects

JOURNAL ARTICLE published 1973 in Human Genetics

Authors: Gerhard J�rgensen | Waltraut J�rgensen | AloisJ. Beuren | Joachim Stoermer

https://doi.org/10.1007/bf00279028 Actions

PKU mutations R408Q and F299C in Norway: Haplotype associations, geographic distributions and phenotype characteristics

JOURNAL ARTICLE published March 1992 in Human Genetics

Authors: Hans Geir Eiken | Karin Stangeland | Leif Skjelkvålez | Per M. Knappskog | Helge Boman | Jaran Apold

https://doi.org/10.1007/bf02265283 Actions

Genetic variation in the apolipoprotein H (β2-glycoprotein I) gene affects plasma apolipoprotein H concentrations

JOURNAL ARTICLE published August 1999 in Human Genetics

Authors: H. Mehdi | C.E. Aston | D.K. Sanghera | R.F. Hamman | M.I. Kamboh

https://doi.org/10.1007/s004399900089 Actions

Association of IFNGR2 gene polymorphisms with pulmonary tuberculosis among the Vietnamese

JOURNAL ARTICLE published May 2012 in Human Genetics

Authors: Minako Hijikata | Junko Shojima | Ikumi Matsushita | Katsushi Tokunaga | Jun Ohashi | Nguyen T. L. Hang | Toru Horie | Shinsaku Sakurada | Nguyen P. Hoang | Pham H. Thuong | Luu T. Lien | Naoto Keicho

https://doi.org/10.1007/s00439-011-1112-8 Actions

Assignment of the gene for human tenascin to the region q32?q34 of chromosome 9

JOURNAL ARTICLE published April 1991 in Human Genetics

Authors: Mariano Rocchi | Nicoletta Archidiacono | Giovanni Romeo | Marco Saginati | Luciano Zardi

https://doi.org/10.1007/bf00201554 Actions

A novel mutation in exon 17 of the ?-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family

JOURNAL ARTICLE published January 1996 in Human Genetics

Authors: Diana Valverde | Teresa Solans | Daniel Grinberg | Susana Balcells | Lluisa Vilageliu | M�nica Bay�s | Pilar Chivelet | Claude Besmond | Michel Goossens | Roser Gonz�lez-Duarte | Montserrat Baiget

https://doi.org/10.1007/bf00218829 Actions

Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping

JOURNAL ARTICLE published December 1993 in Human Genetics

Authors: Makoto Daimon | Keiichi Yamatani | Masahiko Igarashi | Norio Fukase | Atsushi Ogawa | Makoto Tominaga | Hideo Sasaki

https://doi.org/10.1007/bf00420937 Actions

A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis

JOURNAL ARTICLE published April 1996 in Human Genetics

Authors: J. Ramón Bilbao | Liliane Loridan | Luis Castaño

https://doi.org/10.1007/bf02267082 Actions

Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles

JOURNAL ARTICLE published August 2000 in Human Genetics

Authors: Sergi Castellví-Bel | Miguel Fernández-Burriel | Maria Rifé | Dolores Jiménez | Judith Mallolas | Aurora Sánchez | Feliciano Ramos | Montserrat Milà

https://doi.org/10.1007/s004390000349 Actions

Genetic studies on the deficiency of �2-glycoprotein I of human serum

JOURNAL ARTICLE published 1968 in Human Genetics

Authors: Hartwig Cleve

https://doi.org/10.1007/bf00291637 Actions

First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe

JOURNAL ARTICLE published March 1985 in Human Genetics

Authors: Joëlle Boué | Isabelle Oberle | Roland Heilig | Jean Louis Mandel | Ann Moser | H. Moser | J. W. Larsen | Y. Dumez | A. Boué

https://doi.org/10.1007/bf00293039 Actions

Molecular analysis of the ß-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region

JOURNAL ARTICLE published 17 March 1997 in Human Genetics

Authors: R. Vervoort | Neil R. M. Buist | Wim J. Kleijer | Ron Wevers | Jean-Pierre Fryns | Inge Liebaers | W. Lissens

https://doi.org/10.1007/s004390050389 Actions

Partial trisomy 22?an old case reexamined

JOURNAL ARTICLE published February 1985 in Human Genetics

Authors: Gy�rgy Kosztol�nyi | Erica M. B�hler

https://doi.org/10.1007/bf00293299 Actions
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