Buscar

Mostrando ítems 1-10 de 744

Study of functional variants in homozygous islands in Nelore cattle

Anim Sci Inst; Natl Council Sci & Technol Dev; Universidade Estadual Paulista (Unesp) (Oxford Univ Press Inc, 2019-12-01)

Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients

Méndez, Manuel; Granata, Bárbara Xoana; Morán Jiménez, María J.; Parera, Victoria Estela; Batlle, Alcira María del C.; de Salamanca, Rafael Enríquez; Rossetti, Maria Victoria (Springer, 2012-04)

A partial deficiency in protoporphyrinogen oxidase (PPOX) produces the acute/cutaneous (or mixed) variegate porphyria (VP), the third most frequent porphyria in Argentina. This autosomal dominant disorder is clinically ...

Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel

Urzúa Orellana, Blanca; Martínez, Blanca; Ortega Pinto, Ana; Adorno Farías, Daniela; Morales Bozo, Irene; Riadi, Gonzalo; Jara, Lilian; Plaza, Anita; Lefimil, Claudia; Lozano, Carla; Reyes, Monserrat (Elsevier, 2015)

Objective: Amelogenesis imperfecta (AI) is a group of clinically and genetically heterogeneous inherited conditions, causing alterations in the structure of enamel and chemical composition of enamel matrix during development. ...

An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma

Autor desconocido (2014)

Predicción Del Efecto Funcional De Variantes Missense Del Gen Amelogenina, Mediante Análisis Bioinformático.

Autor desconocido (2014)

ALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS

Dominguez Menéndez, Gonzalo; Poggi, Helena; Arancibia, Mónica; Benavides, Felipe; Martínez Aguayo, Alejandro Gregorio (2019)

Profiling of WDR36 Missense Variants in German Patients with Glaucoma

Passuto, Francesca; Mardin, Christian Y.; Michels Rautenstrauss, Karin G.; Weber, Bernhard H. F.; Sticht, Heinrich; Chavarría Soley, Gabriela; Rautenstrauss, Bernd; Kruse, Friedrich; Reis, André (2008-02)

PURPOSE. Mutations in WDR36 were recently reported in patients with adult-onset primary open-angle glaucoma (POAG). In this study, the prevalence of WDR36 variants was investigated in patients with glaucoma who were of ...

Apparent Mineralocorticoid Excess Syndrome In A Brazilian Boy Caused By The Homozygous Missense Mutation P.r186c In The Hsd11b2 Gene.

Coeli, Fernanda Borchers; Ferraz, Lúcio Fábio Caldas; Lemos-Marini, Sofia H V de; Rigatto, Sumara Zuanazi Pinto; Belangero, Vera Maria Santoro; de-Mello, Maricilda Palandi (2008)

A New Missense Mutation Found In The Flna Gene In A Family With Bilateral Periventricular Nodular Heterotopia (bpnh) Alters The Splicing Process.

Tsuneda, Simone S; Torres, Fabio R; Montenegro, Maria A; Guerreiro, Marilisa M; Cendes, Fernando; Lopes-Cendes, Iscia (2008)

Profiling of WDR36 Missense Variants in German Patients with Glaucoma

1
2
3
4
. . .
75

Buscar

Filtros

Study of functional variants in homozygous islands in Nelore cattle

Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients

Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel

An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma

Predicción Del Efecto Funcional De Variantes Missense Del Gen Amelogenina, Mediante Análisis Bioinformático.

ALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS

Profiling of WDR36 Missense Variants in German Patients with Glaucoma

Apparent Mineralocorticoid Excess Syndrome In A Brazilian Boy Caused By The Homozygous Missense Mutation P.r186c In The Hsd11b2 Gene.

A New Missense Mutation Found In The Flna Gene In A Family With Bilateral Periventricular Nodular Heterotopia (bpnh) Alters The Splicing Process.

Profiling of WDR36 Missense Variants in German Patients with Glaucoma