Results 121 to 130 of about 2,946,281 (287)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Cifra: Клиническая медицинаВведение. Послеоперационные парезы гортани (ППГ) являются распространённым осложнением хирургических вмешательств на органах шеи и грудной клетки, существенно влияя на качество жизни пациентов.Цель.
Савчук О.В. +2 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
Dry Needling of Anterior Neck Muscles in a Patient With Muscle Tension Dysphonia: A Case Report
Clinical Case ReportsMuscle tension dysphonia (MTD) is a functional voice disorder commonly treated with voice therapy. However, the role of physiotherapy—specifically dry needling (DN)—has not been explored in the literature.
Yazan Alkhatib
doaj +1 more source
The effects of singing exercises and melodic intonation therapy (MIT) on the male-to-female transgender voice [PDF]
, 2005 " The purpose of this study was to test the efficacy of traditional voice therapy approaches in combination with singing exercises and Melodic Intonation Therapy (MIT) to aid male-to-female transgender individuals gain a more feminine sounding voice ...
Hershberger, Ioanna Georgiadou +1 more
core
Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert +4 more
wiley +1 more source
Pediatric Voice Therapy: How Many Sessions to Discharge? [PDF]
Am J Speech Lang Pathol, 2022 Fujiki RB, Thibeault SL.
europepmc +1 more source
Siegel-Myers Correspondence School of Music voice lesson. 30 31
, 1910 Siegel-Myers Correspondence School of Music, voice lessons numbers thirty and thirty-one.
core +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan +13 more
wiley +1 more source
Recurrent nerve damage following thyroid surgery: What can I do?
World Journal of Otorhinolaryngology-Head and Neck SurgeryObjectives Bilateral recurrent nerve damage still represents one of the main complications following thyroid surgery, even though the nerve intraoperative monitoring has allowed the decrease of this injury.
Domenico Testa +10 more
doaj +1 more source