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Showing results for ISSN matching 0340-6717

A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency

JOURNAL ARTICLE published November 1995 in Human Genetics

Authors: MiguelAngel Garc�a-P�rez | Pablo Sanjurjo | Paz Briones | Mar�aJos� Garc�a-Mu�oz | Vicente Rubio

https://doi.org/10.1007/bf00197410 Actions

Beitrag zur Populationsgenetik der Pyruvatkinase menschlicher Erythrocyten

JOURNAL ARTICLE published 1968 in Human Genetics

Authors: K. G. Blume | G. W. L�hr | O. Praetsch | H. W. R�diger | G. G. Wendt

https://doi.org/10.1007/bf00291870 Actions

Mapping the human ZFX locus to Xp21.3 by in situ hybridization

JOURNAL ARTICLE published April 1989 in Human Genetics

Authors: Gaby M�ller | Werner Schempp

https://doi.org/10.1007/bf00288279 Actions

?-Aminolevulinate dehydratase: Induced expression and regional assignment of the human gene to chromosome 9q13�qter

JOURNAL ARTICLE published May 1985 in Human Genetics

Authors: A. -L. Wang | K. H. Astrin | W. F. Anderson | R. J. Desnick

https://doi.org/10.1007/bf00389449 Actions

Chromosome 17 has a real fragile site at p12

JOURNAL ARTICLE published September 1982 in Human Genetics

Authors: F. Shabtai | D. Klar | I. Halbrecht

https://doi.org/10.1007/bf00274215 Actions

Phenylketonuria in Spain: RFLP haplotypes and linked mutations

JOURNAL ARTICLE published 1993 in Human Genetics

Authors: LourdesR. Desviat | Bel�n P�rez | Magdalena Ugarte

https://doi.org/10.1007/bf00244468 Actions

A newXmnI polymorphism in the regulatory region of the corticotropin releasing hormone gene

JOURNAL ARTICLE published May 1996 in Human Genetics

Authors: Christoph G. O. Baerwald | Gabriel S. Panayi | Jerry S. Lanchbury

https://doi.org/10.1007/bf02281888 Actions

Nucleolus organiser regions on mitotic and meiotic chromosomes from infertile males investigated using a specific silver stain

JOURNAL ARTICLE published 1979 in Human Genetics

Authors: J. Ironside | M. J. W. Faed

https://doi.org/10.1007/bf00273272 Actions

Significance of the CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M780I mutant AR

JOURNAL ARTICLE published 9 April 1999 in Human Genetics

Authors: Ingrid Knoke | Axel Allera | P. Wieacker

https://doi.org/10.1007/s004390050945 Actions

Obesity-related genetic variants, human pigmentation, and risk of melanoma

JOURNAL ARTICLE published July 2013 in Human Genetics

Authors: Xin Li | Liming Liang | Mingfeng Zhang | Fengju Song | Hongmei Nan | Li-E Wang | Qingyi Wei | Jeffrey E. Lee | Christopher I. Amos | Abrar A. Qureshi | Jiali Han

https://doi.org/10.1007/s00439-013-1293-4 Actions

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy

JOURNAL ARTICLE published 29 March 1996 in Human Genetics

Authors: Benjamin B. Roa | Frank Greenberg | Preethi Gunaratne | Christine M. Sauer | Mark S. Lubinsky | Chahira Kozma | Jeanne M. Meck | R. Ellen Magenis | Lisa G. Shaffer | J. R. Lupski

https://doi.org/10.1007/s004390050109 Actions

Cytogenetic investigation of six patients with X isochromosomes, i(Xq), and of two subjects with isodicentric X chromosomes, idic(Xq)

JOURNAL ARTICLE published October 1981 in Human Genetics

Authors: M. Gaál | J. László | P. Bösze

https://doi.org/10.1007/bf00282816 Actions

Human chromosomes and fluorescence

JOURNAL ARTICLE published 1971 in Human Genetics

Authors: J. Wahlstr�m

https://doi.org/10.1007/bf00291038 Actions

A 4p- syndrome

JOURNAL ARTICLE published 1973 in Human Genetics

Authors: A.-V. N. Mikelsaar | G. J. Lazjuk | J. W. Lurie | S. T��r | M. E. K�osaar | Raik Mikelsaar | V. E. Loolaid

https://doi.org/10.1007/bf00278417 Actions

Zur klinischen Differentialdiagnose des Cri du Chat-Syndroms

JOURNAL ARTICLE published 1967 in Human Genetics

Authors: H. J. Schroeder | E. Schleiermacher | T. M. Schroeder | H. Bauer | C. Richter | J. Schwenk

https://doi.org/10.1007/bf00292202 Actions

Partial trisomy for the short arm of chromosome 2 due to familial balanced translocation

JOURNAL ARTICLE published 1978 in Human Genetics

Authors: GurbaxSingh Sekhon | Kutay Taysi | Richard Rath

https://doi.org/10.1007/bf00283579 Actions

An attempt to establish trisomy 8 syndrome

JOURNAL ARTICLE published 1973 in Human Genetics

Authors: Surabhi Kakati | Michael Nihill | Anil K. Sinha

https://doi.org/10.1007/bf00278406 Actions

A simplified method of demonstrating Giemsa-Band pattern in human chromosomes

JOURNAL ARTICLE published 1971 in Human Genetics

Authors: J. P. Chaudhuri | W. Vogel | I. Voiculescu | U. Wolf

https://doi.org/10.1007/bf00273042 Actions

Ein Fall mit einem Mosaik partielle Monosomie G/Monosomie G in den Lymphocyten des peripheren Blutes

JOURNAL ARTICLE published 1968 in Human Genetics

Authors: M. Bauchinger | E. Schmid | E. R�ttinger

https://doi.org/10.1007/bf00286799 Actions

Beurteilung des diagnostischen Wertes der finger- und Handleistenmerkmale von Mongoloiden unter Anwendung einer Diskriminanzanalyse

JOURNAL ARTICLE published 1969 in Human Genetics

Authors: R.D.v. Greyerz-Gloor | P. Auf der Maur | H. Riedwyl

https://doi.org/10.1007/bf00280572 Actions
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