craniofacial abnormalities/protease

Sábháiltear an nasc chuig an gearrthaisce

AiltTrialacha cliniciúlaPaitinní

Roghnaigh cineál sórtála

4 torthaí

A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Reporting a novel mutation in the HTRA1 gene in a CARASIL patient from Americas. Clinical presentation and neuroimaging were consistent with CARASIL. HTRA1 DNA sequencing was performed using advanced ("next generation") sequencing technology. The results revealed a homozygous missense mutation as

Neural crest cells: a model for invasive behavior.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Neural crest cells are the embryonic precursors of the neurons and glia of the peripheral nervous system, pigment cells, and connective tissue in the face, neck and heart. They are induced near the junction of the neural plate and embryonic ectoderm and undergo an epithelial to mesenchymal

Pyknodysostosis: visceral manifestations and simian crease.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Pyknodysostosis is a rare autosomal recessive osteosclerosing skeletal disorder caused by mutations in the CTSK gene situated at 1q21 that codes for cathepsin K - a lysosomal cysteine protease. Mutations in this gene affect the metabolism of skeletal system. This causes problems in bone resorption

Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

The Malpuech, Michels, Mingarelli, Carnevale (3MC) syndrome is a rare, autosomal recessive genetic- disorder associated with mutations in the MASP1/3, COLEC1,1 or COLEC10 genes. The number of 3MC patients with known mutations in these three genes reported so far remains very

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Herbal & Natural Medicine

An bunachar luibheanna míochaine is iomláine le tacaíocht ón eolaíocht

Oibreacha i 55 teanga
Leigheasanna luibhe le tacaíocht ón eolaíocht
Aitheantas luibheanna de réir íomhá
Léarscáil GPS idirghníomhach - clibeáil luibheanna ar an láthair (ag teacht go luath)
Léigh foilseacháin eolaíochta a bhaineann le do chuardach
Cuardaigh luibheanna míochaine de réir a n-éifeachtaí
Eagraigh do chuid spéiseanna agus fanacht suas chun dáta leis an taighde nuachta, trialacha cliniciúla agus paitinní

Clóscríobh symptom nó galar agus léigh faoi luibheanna a d’fhéadfadh cabhrú, luibh a chlóscríobh agus galair agus comharthaí a úsáidtear ina choinne a fheiceáil.
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