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Pitt–Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations
T Zhao, GZ Genchev, S Wu, G Yu, H Lu, J Feng - neurogenetics, 2021 - Springer
Pitt–Hopkins syndrome is an underdiagnosed neurodevelopmental disorder which is
characterized by specific facial features, early-onset developmental delay, and moderate to …
characterized by specific facial features, early-onset developmental delay, and moderate to …
Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study
T Zhao, S Wu, Y Shen, J Leng, GZ Genchev… - Orphanet Journal of …, 2024 - Springer
Abstract Background Pitt–Hopkins syndrome (PTHS) is a neurodevelopmental disorder that
remains underdiagnosed and its clinical presentations and mutation profiles in a diverse …
remains underdiagnosed and its clinical presentations and mutation profiles in a diverse …
Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton–Brown–Rahman syndrome and Say–Barber–Biesecker …
S Park, J Kim, TY Song, DH Jang - Frontiers in Genetics, 2022 - frontiersin.org
Tatton–Brown–Rahman syndrome (TBRS) and Say–Barber–Biesecker–Young–Simpson
variant of Ohdo syndrome (SBBYSS) are extremely rare genetic disorders with less than 100 …
variant of Ohdo syndrome (SBBYSS) are extremely rare genetic disorders with less than 100 …
Unique oral finding in a patient with Pitt-Hopkins Syndrome
M Usuda, T Akitomo, Y Asao, M Tachikake… - Pediatric Dental …, 2024 - Elsevier
Abstract Background Pitt-Hopkins Syndrome (PTHS) is a rare syndrome caused by
heterozygous hypomorphic or null mutation or deletion of transcription factor 4 …
heterozygous hypomorphic or null mutation or deletion of transcription factor 4 …
NRXN1-related disorders, attempt to better define clinical assessment
Background NRXN1-related disorders are uncommonly reported. The clinical features of the
disorders are wide and heterogeneous mainly consisting of undistinctive facial …
disorders are wide and heterogeneous mainly consisting of undistinctive facial …
The Pitt-Hopkins Syndrome: report of 5 patients and literature comparison
G Kutluk, EN Kadem, NC Randa, A Öz - Acta Medica Alanya, 2021 - dergipark.org.tr
Pitt-Hopkins syndrome (PTHS) is characterized by developmental delay, intellectual
disability and behavioral changes, distinctive facial gestalt, and breathing abnormalities …
disability and behavioral changes, distinctive facial gestalt, and breathing abnormalities …
[HTML][HTML] Complex craniosynostosis in Pitt-Hopkins Syndrome: Case report in twins
JRT Melo, ARL Freire Peixoto, DML Souza - Pediatric Neurosurgery, 2024 - karger.com
Abstract Introduction: Pitt-Hopkins syndrome (PTHS) is a rare genetic syndrome associated
with neurodevelopmental disorders and craniofacial dysmorphisms caused by variations in …
with neurodevelopmental disorders and craniofacial dysmorphisms caused by variations in …
Síndrome de Pitt-Hopkins: Reporte del primer caso en la República Dominicana
BB Mercedes - Genetics and Clinical Genomics, 2023 - geneticalatam.com
El síndrome de Pitt-Hopkins (PTHS) es un trastorno genético raro que se caracteriza por
una variante molecular en el gen TCF4, involucrado en la diferenciación neuronal durante …
una variante molecular en el gen TCF4, involucrado en la diferenciación neuronal durante …