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CREditing: a tool for gene tuning in Trypanosoma cruzi
(Elsevier, 2023)
MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
(ELSEVIER SCIENCE BV, 2009)
Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral ...
MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
(Elsevier B.V., 2009-09-01)
Sotos syndrome (MIM #117550) is an autosomal dominant condition characterized by pre and postnatal overgrowth, macrocephaly and typical facial gestalt with frontal bossing, hypertelorism, antimongoloid slant of the palpebral ...
CREditing: a tool for gene tuning in Trypanosoma cruzi
(ElsevierAustralian Society for Parasitology, 2020)
The genetic manipulation of Trypanosoma cruzi continues to be a challenge, mainly due to the lack of available and efficient molecular tools. The CRE-lox recombination system is a site-specific recombinase technology, ...
Array comparative genomic hybridization in confirmation of the deleted genes in a patient with subterminal deletion of the long arm of chromosome 10 associated with sagittal craniosynostosis and dysmorphic features
(BioMed Central, 2014)
Craniosynostosis results from premature ossification of
one or more cranial sutures and leads to alterations in
the shape of the skull and/or premature closure of cranial
fontanels, causing impairment of brain ...
TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes
(Springer Verlag (Germany), 2017)
MOLECULAR-IDENTIFICATION OF HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN TYPE-2 (HPFH TYPE-2) IN PATIENTS FROM BRAZIL
(Springer VerlagNew York, 1995)
Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene
(Univ Chicago Press, 2001-01-01)
Acheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. This severely handicapping condition ...
Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene
(Univ Chicago Press, 2001-01-01)
Acheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. This severely handicapping condition ...