Results 91 to 100 of about 3,111 (261)
Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature
Clinical Genetics, EarlyView.Cousin syndrome (MIM#260660) is a rare recognizable genetic disorder characterized by short stature, pelvi‐scapular dysplasia, and craniofacial dysmorphism due to biallelic pathogenic variants in the TBX15 gene. ABSTRACT Cousin syndrome (MIM#260660) is a rare genetic disorder characterized by short stature, pelvi‐scapular dysplasia and craniofacial ...
Wafaa Alharbi +6 more
wiley +1 more source
Agenesia vesical con desembocadura ureteral en útero (Tipo III)
, 2010 It is a patient of 36,4 weeks of pregnancy by scan of the first trimester and 37,4 weeks by capurro, who was identify to have vesical agenesia at the moment of realization the clinical autopsy.
Álvarez Soler, Jaime +3 more
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AGENESIA DA ARTÉRIA ILÍACA COMUM ESQUERDA
, 2022 Agenesia da artéria ilíaca comum esquerda é uma malformação embrionária rara. Seu diagnóstico frequentemente é acidental, durante exames de imagem.
Vinicius Gonçalves e Silva
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Acta Médica Portuguesa, 1998 In the last 10 years we treated ten patients with the diagnosis of vaginal agenesia. The reconstruction was performed according to the McIndoe procedure.
F Melo, C Godinho
doaj +1 more source
Clinical Genetics, EarlyView.Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen +9 more
wiley +1 more source
Revista de la Facultad de Medicina, 1951 Hospital de la Misericordia. Servicio del doctor Martínez. Sala Rosa. C. J. P. E. 10 años. N. El Charquito (Soacha). F. de L .Septi~tnbre 12 de 1950. F. de S. Noviembre 5 de 1950. D. Preliminar, neumonía. C. de ingreso. Consulta porque
Alfonso Bonilla Naar +2 more
doaj
Dental Traumatology, EarlyView.ABSTRACT Background/Aims To evaluate the prevalence and timing of post‐operative complications following tooth autotransplantation, identify factors associated with earlier diagnosis, and report long‐term survival and success rates. Materials and Methods A single‐centre retrospective cohort study was conducted at a Czech university dental clinic (2003 ...
Juraj Marton +5 more
wiley +1 more source
Prevalência de agenesia de terceiros molares na clínica universitária Egas Moniz [PDF]
, 2013 Dissertação para obtenção do grau de Mestre no Instituto Superior de Ciências da Saúde Egas MonizIntrodução: A agenesia dentária, ou hipodontia, é a anomalia dentária mais frequente no ser humano e pode ser definida como a ausência congénita de um ou ...
Silva, Tatiana Cristina Lino Guedes
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Impacto de la agenesia de incisivos laterales maxilares en la oclusión: revisión bibliográfica
International Journal of Interdisciplinary DentistryObjetivo: describir el impacto de la agenesia no sindrómica de incisivos laterales maxilares permanentes en la oclusión. Material y método: se realizó una búsqueda de la evidencia disponible de manera electrónica en las bases de datos PubMed, Cochrane ...
Ignacia Cuellar-Chaparro +2 more
doaj +1 more source
Testicular torsion in foals and stallions
Equine Veterinary Education, EarlyView.Summary Testicular torsion is a rare condition in horses characterised by a change in the position of the testis due to the testicular mesentery twisting around its own axis; it can occur both when the testis is still in the abdominal cavity and when it has descended into the scrotum.
C. P. Bartmann
wiley +1 more source