Clinical Reports
Search result(s): 20
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Telepractice in School-Age Children Who Stutter: A Controlled Before and After Study to Evaluate the Efficacy Of MIDA-SP
Telepractice in School-Age Children Who Stutter: A Controlled Before and After Study to Evaluate the Efficacy Of MIDA-SP
Article
The Canadian Occupational Performance Measure: a Feasible Multidisciplinary Outcome Measure for Pediatric Telerehabilitation
The Canadian Occupational Performance Measure: a Feasible Multidisciplinary Outcome Measure for Pediatric Telerehabilitation
Article
Facial Tightening Effects, Following Focused and Radial Acoustic Wave Therapy Assessment, Using a Three‐Dimensional Digital Imaging
Facial Tightening Effects, Following Focused and Radial Acoustic Wave Therapy Assessment, Using a Three‐Dimensional Digital Imaging
Article Year: 2020
The Fractional CO<sub>2</sub> Laser for the Treatment of Genitourinary Syndrome of Menopause: A Prospective Multicenter Cohort Study
The Fractional CO2 Laser for the Treatment of Genitourinary Syndrome of Menopause: A Prospective Multicenter Cohort Study
Article Year: 2020
The Fractional CO<sub>2</sub> Laser for the Treatment of Genitourinary Syndrome of Menopause: A Prospective Multicenter Cohort Study
The Fractional CO2 Laser for the Treatment of Genitourinary Syndrome of Menopause: A Prospective Multicenter Cohort Study
Article Year: 2020
Management of COVID‐19 infection in organic acidemias
Management of COVID‐19 infection in organic acidemias
Article Year: 2021
Costello syndrome with special cutaneous manifestations and <i>HRAS</i> G12D mutation: A case report and literature review
Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review
Article Year: 2021
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum
Article Year: 2021
The first Japanese family of <i>CDH3</i>‐related hypotrichosis with juvenile macular dystrophy
The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy
Article Year: 2021
Novel mutations in <i>BMP1</i> result in a patient with autosomal recessive osteogenesis imperfecta
Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imperfecta
Article Year: 2021
A novel and recurrent <i>KLHL40</i> pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8
Article Year: 2021
Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report
Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report
Article Year: 2021
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency
Article Year: 2021
Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype
Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype
Article Year: 2021
Severe brain calcification and migraine headache caused by <i>SLC20A2</i> and <i>PDGFRB</i> heterozygous mutations in a five‐year‐old Chinese girl
Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl
Article Year: 2021
Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause
Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause
Article Year: 2021
A novel essential splice site variant in SPTB in a large hereditary spherocytosis family
A novel essential splice site variant in SPTB in a large hereditary spherocytosis family
Article Year: 2021
Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype
Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype
Article Year: 2021
Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (<i>SLC6A8</i>) deficiency
Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency
Article Year: 2021
Deletion of conserved non‐coding sequences downstream from <i>NKX2‐1</i>: A novel disease‐causing mechanism for benign hereditary chorea
Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea
Article Year: 2021