نتایج جستجو برای: peters anomaly

تعداد نتایج: 42218  

2015
Jorge Sequeiros

Definition Genetic counselling is “a process of communication that deals with the occurrence, or risk of occurrence, of a (possibly) genetic disorder in the family” (ASHG, 1975; EuroGentest guidelines). It involves an attempt, by appropriately trained persons, to help patients and their families to (1) understand the medical facts of the disease; (2) appreciate the contribution of heredity and ...

Journal: :The Journal of biological chemistry 2008
Daniel Hess Jeremy J Keusch Saskia A Lesnik Oberstein Raoul C M Hennekam Jan Hofsteenge

Peters Plus syndrome is an autosomal recessive disorder characterized by anterior eye chamber defects, disproportionate short stature, developmental delay, and cleft lip and/or palate. It is caused by splice site mutations in what was thought to be a beta1,3-galactosyltransferase-like gene (B3GALTL). Recently, we and others found this gene to encode a beta1,3-glucosyltransferase involved in the...

Journal: :Mitteilungen des Instituts für Österreichische Geschichtsforschung 1905

2009
Mike Reid

The struggle for regional government in Auckland The 1966 Encyclopaedia of New Zealand had some quite interesting things to say about the future of local government. In a brief article it noted the disjunction between rapidly growing urban areas, like Auckland, and their fragmented local government systems, resulting in problems of planning, coordination and the execution of regional works and ...

Journal: :The Biochemical journal 1954
E M GAL R A PETERS R W WAKELIN

The work described here was started to extend knowledge of the relative effects of fluoro compounds with special reference to fluoroacetate and fluorocitrate; it was hoped that it would have particular application to effects upon the liver and to the biochemical mechanism of convulsions induced by fluorocitrate. Bartlett & Barron (1947) showed originally that acetate accumulates after fluoroace...

Journal: :in:cite journal 2021

Luisa Karime Gonzalez, Jaden McGregor, Lida Valeria Pineda Flores, Lainey Rios, Annie Silva, Kaitlind Peters, Rubén Gaztambide-Fernandez, Pedro Morán Bonilla, Michael Carlson

Journal: :Science 2005
A L Day

The Study of Earth Movements in California: DR. ARTHUR L. DAY... 323 The Second General Assembly of the International Geophysical Union: PROFESSOR HARRY FIELDING REID .... 328 In Memoriam-Sir Thomas Clifford Allbutt: LT. COLONEL F. H. GARRISON .330 Scientific Events: John Fillmore Hayford; The Eastern New York Section of the American Chemical Society; The National Institute for Research in Coll...

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