Results 51 to 60 of about 1,414 (228)

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman   +7 more
wiley   +1 more source

Piezosurgical partial ostectomy of the incisive bone for an ossifying fibroma removal in a 4‐year‐old Warmblood gelding

open access: yesEquine Veterinary Journal, EarlyView.
Abstract Background Ossifying fibromas are uncommon in horses and complete surgical excision with premaxillectomy, maxillectomy or mandibulectomy is recommended. Piezosurgery has been previously used in equines only in one study. Objective To report a case of ossifying fibroma treated with piezosurgery and to describe its follow‐up.
G. Forni   +3 more
wiley   +1 more source

Tomografia computadorizada na agenesia do corpo caloso: achados em 27 casos

open access: yesArquivos de Neuro-Psiquiatria, 1998
Foi realizado estudo retrospectivo de tomografia computadorizada em 27 pacientes com anormalidades anatômicas definidas como agenesia total do corpo caloso, afastando-se os casos de agenesia parcial.
MINGUETTI GUILBERTO   +2 more
doaj  

The importance of gene polymorphism in familial inheritance of endometriosis

open access: yesInternational Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective The study aimed to investigate familial transmission patterns in women with endometriosis by generating a customized single‐nucleotide polymorphism (SNP) array. Methods Patients aged 18–45 who were diagnosed histopathologically with endometriosis were included in the study.
Hale Goksever Celik   +4 more
wiley   +1 more source

Agenesia do cerebelo associada a microcefalia e agiria: relato de um caso autopsiado em recém-nascido e revisão da literatura

open access: yesArquivos de Neuro-Psiquiatria, 1988
É apresentado um caso autopsiado de agenesia do cerebelo associada a microcefalia, agiria e deformidades das extremidades e pavilhões auriculares, associação esta até então não relatada na literatura. Este é o sétimo caso de agenesia cerebelar registrado
José Eymard Homem Pittella   +1 more
doaj   +1 more source

Recent advances and clinical applications of 3D printing for female reproductive organ regeneration and gynecological disease

open access: yesInterdisciplinary Medicine, EarlyView.
This comprehensive review highlights the transformative role of 3D printing and bioprinting technologies in the regeneration of female reproductive organs and the treatment of gynecological diseases. Unlike previous overviews that focus narrowly on isolated applications, this work provides an integrative analysis of recent clinical and preclinical ...
Chan Hum Park, In‐Sun Hong
wiley   +1 more source

Agenesia pulmonar [PDF]

open access: yesRevista chilena de pediatría, 1974
JORGE JIMENEZ, LEONIDAS PADILLA
openaire   +3 more sources

Agenesia pulmonar

open access: yesRevista Universitas Medica, 2010
La agenesia pulmonar es una alteración poco frecuente, con predominio en el sexo femenino y sin preferencia por la lateralidad. Reportamos el caso de un recién nacido masculino con diagnóstico prenatal de hernia diafragmática.
MERCEDES OLAYA   +3 more
doaj  

The pitfalls of gallbladder agenesis combined with small bowel malrotation [PDF]

open access: yesFolia Medica
Gallbladder agenesia is a rare congenital anomaly that is frequently overlooked in clinical practice, often misdiagnosed as chronic sclero-fibrous cholecystitis or cholelithiasis.
Georgi Popivanov   +6 more
doaj   +3 more sources

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada   +6 more
wiley   +1 more source

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