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Showing results for ISSN matching 0340-6717

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

Cytologic demonstration of differential activity of rRNA gene clusters in different human tissues

JOURNAL ARTICLE published March 1985 in Human Genetics

Authors: A. de Capoa | P. Marlekaj | A. Baldini | M. Rocchi | N. Archidiacono

https://doi.org/10.1007/bf00293027 Actions

Human and rodent transformed cells are more sensitive to in vitro induction of SCE by N-methyl-N′-nitro-N-nitrosoguanidine (MNNG) than normal cells

JOURNAL ARTICLE published March 1983 in Human Genetics

Authors: Nicholas C. Popescu | Suzanne C. Amsbaugh | Joseph A. DiPaolo

https://doi.org/10.1007/bf00285398 Actions

Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis

JOURNAL ARTICLE published 9 July 1997 in Human Genetics

Authors: Christiane Wüchner | Katja Hilbert | Bernhard Zabel | A. Winterpacht

https://doi.org/10.1007/s004390050493 Actions

The woman who walked into the sea: Huntington’s and the making of a genetic disease

JOURNAL ARTICLE published February 2009 in Human Genetics

Authors: Peter S. Harper

https://doi.org/10.1007/s00439-008-0594-5 Actions

AB0 blood groups and the type of leprosy in an Indian population

JOURNAL ARTICLE published 1966 in Human Genetics

Authors: F. Vogel | M. R. Chakravartti

https://doi.org/10.1007/bf00291299 Actions

Human hepatocyte nuclear factor-4 (hHNF-4) gene maps to 20q12-q13.1 between PLCG1 and D20S17

JOURNAL ARTICLE published 27 January 1997 in Human Genetics

Authors: Alexandros Argyrokastritis | Smaragda Kamakari | Manuela Kapsetaki | Aristidis Kritis | Iannis Talianidis | N. K. Moschonas

https://doi.org/10.1007/s004390050345 Actions

Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome

JOURNAL ARTICLE published February 1993 in Human Genetics

Authors: Anne Moncla | Luciana Piras | OswaldoFernando Arbex | Fran�oise Muscatelli | Marie-Genevi�ve Mattei | Jean-Fran�ois Mattei | Michel Fontes

https://doi.org/10.1007/bf00202487 Actions

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

JOURNAL ARTICLE published February 2019 in Human Genetics

Research funded by Italian Ministry of Health (RF-2011-02350693)

Authors: Marco Fichera | Pinella Failla | Lucia Saccuzzo | Martina Miceli | Eliana Salvo | Lucia Castiglia | Ornella Galesi | Lucia Grillo | Francesco Calì | Donatella Greco | Carmelo Amato | Corrado Romano | Maurizio Elia

https://doi.org/10.1007/s00439-019-01972-3 Actions

“Response to the letter to the editor “Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency””

JOURNAL ARTICLE published April 2021 in Human Genetics

Research funded by National Key Research and Development Program of China (2017YFC1001100)

Authors: Xi Yang | Feng Zhang | Qinghua Shi | Yanhua Wu

https://doi.org/10.1007/s00439-020-02233-4 Actions

Editorial to special issue on Ethics in Genetics

JOURNAL ARTICLE published May 2022 in Human Genetics

Authors: Kate Burke

https://doi.org/10.1007/s00439-022-02454-9 Actions

A novel coding exon of the human adenomatous polyposis coli gene

JOURNAL ARTICLE published October 1995 in Human Genetics

Authors: Zora Šuleková | Wolfgang G. Ballhausen

https://doi.org/10.1007/bf00191808 Actions
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