Works about ARTHROGRYPOSIS
Results: 509
Apertura del primer espacio en pacientes con artrogriposis múltiple congénita y pulgar aducto con técnica de colgajo dorsorradial del índice.
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- Acta Ortopédica Mexicana, 2014, v. 28, n. 1, p. 23
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- Publication type:
- Article
Tratamiento de tórax flotante. Presentación de caso.
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- 2008
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- Publication type:
- Case Study
Síndrome de Freeman-Sheldon. Informe de cinco casos.
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- Acta Ortopédica Mexicana, 2007, v. 21, n. 6, p. 338
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- Publication type:
- Article
Síndrome de Escobar o pterygium múltiple congénito. Reporte de un caso.
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- Acta Ortopédica Mexicana, 2006, v. 20, n. 5, p. 214
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- Publication type:
- Article
Fetal Akinesia Deformation Sequence with Delayed Skeletal Muscle Maturation and Polymicrogyria: Evidence for a Hypoxic/Ischemic Pathogenesis.
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- Pediatric & Developmental Pathology, 2010, v. 13, n. 3, p. 192, doi. 10.2350/09-08-0693-OA.1
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- Article
Fingerprint comparison between before disease onset and after systemic sclerosis diagnosis: a monocentric cross-sectional study.
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- Clinical Rheumatology, 2023, v. 42, n. 1, p. 117, doi. 10.1007/s10067-022-06353-2
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- Article
Clarity on Diagnosis in Freeman-Burian Syndrome.
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- Türkiye Klinikleri Journal of Case Reports, 2022, v. 30, n. 3, p. 221, doi. 10.5336/caserep.2022-88270
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- Article
A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome.
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- Türkiye Klinikleri Journal of Case Reports, 2021, v. 29, n. 2, p. 85, doi. 10.5336/caserep.2020-80178
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- Article
An infant with Cholestasis and Refractory Electrolyte Abnormalities.
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- Asian Journal of Pediatric Nephrology, 2022, v. 5, n. 1, p. 43, doi. 10.4103/ajpn.ajpn_36_21
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- Publication type:
- Article
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
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- Human Genetics, 2023, v. 142, n. 4, p. 543, doi. 10.1007/s00439-023-02528-2
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- Article
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
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- Human Genetics, 2020, v. 139, n. 4, p. 513, doi. 10.1007/s00439-020-02117-7
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- Article
A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.
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- Human Genetics, 2019, v. 138, n. 1, p. 105, doi. 10.1007/s00439-018-1963-3
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- Article
A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement.
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- 2024
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- Publication type:
- Letter
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.
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- Neurological Sciences, 2022, v. 43, n. 7, p. 4473, doi. 10.1007/s10072-022-05934-y
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- Article
Dominant Form of Arthrogryposis Multiplex Congenita with Limited Mouth Opening: A Clinical and Imaging Study.
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- Journal of Orofacial Pain, 2005, v. 19, n. 1, p. 82
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- Article
Design of Gesture Recognition System Based on Elastic Conductive Covered Yarn.
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- Cotton Textile Technology, 2021, v. 49, n. 594, p. 21
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- Article
Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A.
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- Dermatology & Therapy, 2024, v. 14, n. 2, p. 545, doi. 10.1007/s13555-023-01088-7
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- Publication type:
- Article
Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I.
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- Brain Sciences (2076-3425), 2018, v. 8, n. 7, p. 136, doi. 10.3390/brainsci8070136
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- Article
VP13.08: Prenatal findings of cataract and arthrogryposis: cerebro‐oculo‐facio‐skeletal syndrome and review of differential diagnosis.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 104, doi. 10.1002/uog.22517
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- Article
VP13.04: Prenatal diagnosis of a congenital knee dislocation.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 102, doi. 10.1002/uog.22513
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- Publication type:
- Article
P05.02: Prognostic significance of prenatal ultrasound in fetal arthrogryposis multiplex congenital (AMC).
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 167, doi. 10.1002/uog.20914
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- Publication type:
- Article
OC06.01: Single gene, gene panel and exome sequencing applied in structurally abnormal fetuses with a normal chromosomal microarray analysis.
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 13, doi. 10.1002/uog.20456
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- Publication type:
- Article
EP07.04: Prenatal diagnosis of arthrogryposis multiplex congenital.
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- Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 290, doi. 10.1002/uog.18430
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- Publication type:
- Article
OP07.09: Fetal akinesia deformation sequence: is motor assessment of additional value for in utero diagnosis? A ten-year cohort study.
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- Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 69, doi. 10.1002/uog.17758
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- Publication type:
- Article
P07.06: The use of 3D and 4D ultrasound in a case of distal arthrogryposis.
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- Ultrasound in Obstetrics & Gynecology, 2013, v. 42, p. 139, doi. 10.1002/uog.13003
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- Publication type:
- Article
P09.22: Congenital arthrogryposis: report of recurrency.
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- Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 204, doi. 10.1002/uog.9746
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- Publication type:
- Article
The role of total ankle replacement in patients with haemophilia and end‐stage ankle arthropathy: A review.
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- Haemophilia, 2021, v. 27, n. 2, p. 184, doi. 10.1111/hae.14196
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- Publication type:
- Article
Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.
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- 2017
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- Publication type:
- Case Study
Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?
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- 2014
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- Publication type:
- Case Study
Genetics of Arthrogryposis and Macroglossia in Piemontese Cattle Breed.
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- Animals (2076-2615), 2020, v. 10, n. 10, p. 1732, doi. 10.3390/ani10101732
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- Article
Editorial: Targeting Cardiac Proteotoxicity.
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- 2021
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- Publication type:
- Editorial
Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population.
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- American Journal of Case Reports, 2019, v. 20, p. 719, doi. 10.12659/AJCR.914870
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- Publication type:
- Article
Developmental myosins: expression patterns and functional significance.
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- Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0046-6
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- Publication type:
- Article
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.
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- Skeletal Muscle, 2011, v. 1, n. 1, p. 1, doi. 10.1186/2044-5040-1-23
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- Publication type:
- Article
Infantile Systemic Hyalinosis.
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- Pravara Medical Review, 2020, v. 12, n. 2, p. 31, doi. 10.36848/PMR/2020/12100.51275
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- Article
Rare Case Series of Arthrogryposis Multiplex Congenita.
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- Pravara Medical Review, 2016, v. 8, n. 4, p. 18
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- Publication type:
- Article
HYALINE FIBROMATOSIS SYNDROME: REPORT AND LITERATURE REVIEW OF A RARE AND FATAL GENETIC DISORDER.
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- Pediatric Oncall Journal, 2019, v. 16, n. 3, p. 83, doi. 10.7199/ped.oncall.2019.47
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- Article
Hand-Use Preferences for Reaching and Object Exploration in Children with Impaired Upper Extremity Functioning: The Role of Environmental Affordances.
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- Symmetry (20738994), 2023, v. 15, n. 12, p. 2161, doi. 10.3390/sym15122161
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- Article
Pena-Shokeir syndrome: current management strategies and palliative care.
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- Application of Clinical Genetics, 2018, v. 11, p. 111, doi. 10.2147/TACG.S154643
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- Publication type:
- Article
Initial Description of the Presumed Congenital Zika Syndrome.
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- American Journal of Public Health, 2016, v. 106, n. 4, p. 598, doi. 10.2105/AJPH.2016.303115
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- Article
Neurodevelopmental outcomes in a cohort of children with congenital Zika syndrome at 12 and 24 months of age.
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- Child: Care, Health & Development, 2023, v. 49, n. 2, p. 304, doi. 10.1111/cch.13044
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- Publication type:
- Article
Amyoplasia congenita and intestinal atresia: a common etiology.
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- Acta Paediatrica, 1999, v. 88, n. 12, p. 1405, doi. 10.1111/j.1651-2227.1999.tb01060.x
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- Publication type:
- Article
Midterm clinical and radiological outcomes of arthrogryposis-associated clubfoot treated with the Ponseti method: a retrospective observational study and comprehensive literature review.
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- Journal of Orthopaedic Surgery & Research, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13018-024-05101-3
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- Publication type:
- Article
Long‐term follow up on quality of life of adults with arthrogryposis.
- Published in:
- 2018
- Publication type:
- Abstract
Gait and compensatory mechanisms in children with arthrogryposis.
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- Developmental Medicine & Child Neurology, 2015, v. 57, p. 11, doi. 10.1111/dmcn.12778_18
- Publication type:
- Article
Oral Presentations.
- Published in:
- 2009
- Publication type:
- Abstract
Effects of carbon fibre spring orthoses on gait in ambulatory children with motor disorders and plantarflexor weakness.
- Published in:
- Developmental Medicine & Child Neurology, 2007, v. 49, n. 8, p. 615, doi. 10.1111/j.1469-8749.2007.00615.x
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- Publication type:
- Article
Mutations in fast skeletal troponin I, troponin T, and ß-tropomyosin that cause distal arthrogryposis all increase contractile function.
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- FASEB Journal, 2007, v. 21, n. 3, p. 896, doi. 10.1096/fj.06-6899com
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- Article
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
- Published in:
- 2021
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- Publication type:
- journal article
Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.
- Published in:
- 2016
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- Publication type:
- journal article