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Showing results for ISSN matching 0340-6717

Partial deficiency of red cell 6-phosphogluconate dehydrogenase: A family study

JOURNAL ARTICLE published 1979 in Human Genetics

Authors: F. Ajmar | G. Lamedica | C. Garr� | R. Ravazzolo | M. Sessarego | A. Campostano

https://doi.org/10.1007/bf00278684 Actions

A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation

JOURNAL ARTICLE published December 2019 in Human Genetics

Research funded by São Paulo Research Foundation/CAPES (13/08135-2)

Authors: Fernanda Gutierrez-Rodrigues | Nohad Masri | Eliane Chouery | Carrie Diamond | Nadine Jalkh | Alana Vicente | Sachiko Kajigaya | Fayez Abillama | Noha Bejjani | Wassim Serhal | Rodrigo T. Calado | Neal S. Young | Hussein Farhat | Marie Louise Coussa

https://doi.org/10.1007/s00439-019-02076-8 Actions

Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France

JOURNAL ARTICLE published August 2003 in Human Genetics

Authors: Virginie Scotet | Marie-Pierre Audrézet | Michel Roussey | Gilles Rault | Martine Blayau | Marc De Braekeleer | Claude Férec

https://doi.org/10.1007/s00439-003-0962-0 Actions

Chromosomal damage in chronic alcohol users

JOURNAL ARTICLE published 1975 in Human Genetics

Authors: G�nter Obe | Jan Herha

https://doi.org/10.1007/bf00297623 Actions

Sequence polymorphism in kringle IV 37 in linkage disequilibrium with the apolipoprotein (a) size polymorphism

JOURNAL ARTICLE published March 1995 in Human Genetics

Authors: H.G. Kraft | C. Haibach | A. Lingenhel | C. Brunner | M. Trommsdorff | F. Kronenberg | H.J. M�ller | G. Utermann

https://doi.org/10.1007/bf00225193 Actions

Genetic architecture of retinoic-acid signaling-associated ocular developmental defects

JOURNAL ARTICLE published September 2019 in Human Genetics

Authors: B. Nedelec | J.-M. Rozet | L. Fares Taie

https://doi.org/10.1007/s00439-019-02052-2 Actions

The human gene encoding insulin-like growth factor I is located on chromosome 12

JOURNAL ARTICLE published February 1985 in Human Genetics

Authors: J. W. M. Höppener | P. de Pagter-Holthuizen | A. H. M. Geurts van Kessel | M. Jansen | S. D. Kittur | S. E. Antonarakis | C. J. M. Lips | J. S. Sussenbach

https://doi.org/10.1007/bf00293288 Actions

Markers that discriminate between European and African ancestry show limited variation within Africa

JOURNAL ARTICLE published 1 December 2002 in Human Genetics

Authors: Heather Collins-Schramm | Rick Kittles | Darwin Operario | James Weber | Lindsey Criswell | Richard Cooper | Michael Seldin

https://doi.org/10.1007/s00439-002-0818-z Actions

Distribution of human adult lactase phenotypes in the population of Austria

JOURNAL ARTICLE published December 1982 in Human Genetics

Authors: W. Rosenkranz | B. Hadorn | W. M�ller | P. Heinz-Erian | Ch. Hensen | G. Flatz

https://doi.org/10.1007/bf00282306 Actions

The Ca 2+ -sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism

JOURNAL ARTICLE published 2 July 1996 in Human Genetics

Authors: Roger Løvlie | Hans Geir Eiken | Jan Inge Sørheim | H. Boman

https://doi.org/10.1007/s004390050174 Actions

A distal auxiliary element facilitates cleavage and polyadenylation of Dux4 mRNA in the pathogenic haplotype of FSHD

JOURNAL ARTICLE published September 2017 in Human Genetics

Authors: Natoya Peart | Eric J. Wagner

https://doi.org/10.1007/s00439-017-1813-8 Actions

SNTG1, the gene encoding ?1-syntrophin: a candidate gene for idiopathic scoliosis

JOURNAL ARTICLE published 1 June 2004 in Human Genetics

Authors: Stavros Bashiardes | Rose Veile | Missy Allen | Carol A. Wise | Mathew Dobbs | Jose A. Morcuende | Lazlos Szappanos | John A. Herring | Anne M. Bowcock | Michael Lovett

https://doi.org/10.1007/s00439-004-1121-y Actions

The human T locus and spina bifida risk

JOURNAL ARTICLE published November 2004 in Human Genetics

Authors: Liselotte E. Jensen | Sandrine Barbaux | Katy Hoess | Sven Fraterman | Alexander S. Whitehead | Laura E. Mitchell

https://doi.org/10.1007/s00439-004-1185-8 Actions

Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations

JOURNAL ARTICLE published February 2010 in Human Genetics

Authors: Isabelle Schrauwen | Megan Ealy | Erik Fransen | Kathleen Vanderstraeten | Melissa Thys | Nicole C. Meyer | Marcel Cosgarea | Alex Huber | Manuela Mazzoli | Markus Pfister | Richard J. H. Smith | Guy Van Camp

https://doi.org/10.1007/s00439-009-0754-2 Actions

Regions of homozygosity and their impact on complex diseases and traits

JOURNAL ARTICLE published January 2011 in Human Genetics

Authors: Chee Seng Ku | Nasheen Naidoo | Shu Mei Teo | Yudi Pawitan

https://doi.org/10.1007/s00439-010-0920-6 Actions

Missense mutations in hMLH1 associated with colorectal cancer

JOURNAL ARTICLE published November 1999 in Human Genetics

Authors: T. Liu | P. Tannergård | P. Hackman | C. Rubio | G. Lindmark | U. Kressner | D. Hellgren | B. Lambert | A. Lindblom

https://doi.org/10.1007/s004399900160 Actions

Heterozygous expression of X-linked chondrodysplasia punctata

JOURNAL ARTICLE published December 1990 in Human Genetics

Authors: Doris W�hrle | Gotthold Barbi | Wolfgang Schulz | Peter Steinbach

https://doi.org/10.1007/bf00197708 Actions

Populationsgenetik der Adenylatkinase (EC 2.7.4.3.)

JOURNAL ARTICLE published July 1968 in Human Genetics

Authors: G. Radam | H. Strauch

https://doi.org/10.1007/bf00287161 Actions

Evidence of a preferential inactivation of the paternally derived X chromosome in a 46,XX true hermaphrodite

JOURNAL ARTICLE published January 1985 in Human Genetics

Authors: C. Boucekkine | D. Nafa | M. Casanova-Bettane | F. Latron | M. Fellous | M. Benmiloud

https://doi.org/10.1007/bf00295538 Actions

Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat

JOURNAL ARTICLE published August 1991 in Human Genetics

Authors: MichaelB. Petersen | JamesL. Weber | SusanA. Slaugenhaupt | AnneE. Kwitek | MelvinG. McInnis | Aravinda Chakravarti | StylianosE. Antonarakis

https://doi.org/10.1007/bf00197156 Actions
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