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Cover Image, Volume 58, Number 7, July 2023.
- Published in:
- Pediatric Pulmonology, 2023, v. 58, n. 7, p. i, doi. 10.1002/ppul.26552
- By:
- Publication type:
- Article
First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.
- Published in:
- Pediatric Pulmonology, 2023, v. 58, n. 7, p. 1942, doi. 10.1002/ppul.26414
- By:
- Publication type:
- Article
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 940, doi. 10.1002/mdc3.13086
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- Publication type:
- Article
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl–Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl–Transfer RNA Synthetase Mutations in Human Disease.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 8, p. 1037, doi. 10.1177/0883073814553272
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- Publication type:
- Article
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-98
- By:
- Publication type:
- Article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Specific combination of compound heterozygous mutations in 17βhydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 90, doi. 10.1186/1750-1172-7-90
- By:
- Publication type:
- Article
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
- Published in:
- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-023-04393-4
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- Publication type:
- Article
Age and growth parameters for three heavily exploited shark species off temperate eastern Australia.
- Published in:
- ICES Journal of Marine Science / Journal du Conseil, 2014, v. 71, n. 3, p. 559, doi. 10.1093/icesjms/fst164
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- Publication type:
- Article
Age and growth of the tiger shark Galeocerdo cuvier off the east coast of Australia.
- Published in:
- Journal of Fish Biology, 2015, v. 87, n. 2, p. 422, doi. 10.1111/jfb.12732
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- Publication type:
- Article
Micro-computed tomography: an alternative method for shark ageing.
- Published in:
- Journal of Fish Biology, 2012, v. 80, n. 5, p. 1292, doi. 10.1111/j.1095-8649.2011.03188.x
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- Publication type:
- Article
Improving reliability of species identification and logbook catch reporting by commercial fishers in an Australian demersal shark longline fishery.
- Published in:
- Fisheries Management & Ecology, 2018, v. 25, n. 3, p. 186, doi. 10.1111/fme.12276
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- Publication type:
- Article
Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1688, doi. 10.1002/ajmg.a.38838
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- Publication type:
- Article
Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1115, doi. 10.1002/ajmg.a.38658
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- Publication type:
- Article
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 967, doi. 10.1002/ajmg.a.37519
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- Publication type:
- Article
Population Expansion and Genetic Structure in <i>Carcharhinus</i><i> brevipinna</i> in the Southern Indo-Pacific.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075169
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- Publication type:
- Article
Very late-onset Sandhoff disease presenting as Kennedy disease.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Fatty liver in a non-obese patient.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Assessment of subclinical venous catheter-related diseases in horses and associated risk factors.
- Published in:
- Veterinary Record: Journal of the British Veterinary Association, 2009, v. 164, n. 8, p. 227, doi. 10.1136/vr.164.8.227
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- Publication type:
- Article
Assessing techniques for disinfecting sites for inserting intravenous catheters into the jugular veins of horses.
- Published in:
- Veterinary Record: Journal of the British Veterinary Association, 2009, v. 164, n. 2, p. 51, doi. 10.1136/vr.164.2.51
- By:
- Publication type:
- Article
Addressing Cybersecurity Risks During the COVID-19 Pandemic.
- Published in:
- MDAdvisor: A Journal for the New Jersey Medical Community, 2020, v. 13, n. 4, p. 33
- By:
- Publication type:
- Article
Autologous olfactory ensheathing cell transplantation in human paraplegia: a 3-year clinical trial.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 9, p. 2376, doi. 10.1093/brain/awn173
- By:
- Publication type:
- Article
Autologous olfactory ensheathing cell transplantation in human spinal cord injury.
- Published in:
- 2005
- By:
- Publication type:
- Journal Article
Autologous olfactory ensheathing cell transplantation in human spinal cord injury.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 12, p. 2951
- By:
- Publication type:
- Article
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Novel Mutation in ABCA3 Resulting in Fatal Congenital Surfactant Deficiency in Two Siblings.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2014, v. 189, n. 6, p. 750, doi. 10.1164/rccm.201312-2225le
- By:
- Publication type:
- Article
Prediction of congenital hypothyroidism based on initial screening thyroid-stimulating-hormone.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 926, doi. 10.1002/jimd.12365
- By:
- Publication type:
- Article
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1321, doi. 10.1002/jimd.12278
- By:
- Publication type:
- Article
Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 504, doi. 10.1002/mgg3.223
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- Publication type:
- Article
Developing a spinal cord injury research strategy using a structured process of evidence review and stakeholder dialogue. Part III: outcomes.
- Published in:
- Spinal Cord, 2015, v. 53, n. 10, p. 729, doi. 10.1038/sc.2015.87
- By:
- Publication type:
- Article
William (Bill) Evan Davies AM RACP FAFRM, 8 September 1940--14 May 2008.
- Published in:
- 2009
- By:
- Publication type:
- Journal Article
Health-related outcomes of people with spinal cord injury -- a 10 year longitudinal study.
- Published in:
- 2008
- By:
- Publication type:
- Journal Article
Health-related outcomes of people with spinal cord injury—a 10 year longitudinal study.
- Published in:
- Spinal Cord, 2008, v. 46, n. 5, p. 386, doi. 10.1038/sj.sc.3102159
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- Publication type:
- Article
A case of unusual substance abuse causing myeloneuropathy.
- Published in:
- Spinal Cord, 2007, v. 45, n. 4, p. 314, doi. 10.1038/sj.sc.3101962
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- Publication type:
- Article
Rehabilitation outcomes in traumatic spinal cord injury in Australia: functional status, length of stay and discharge setting.
- Published in:
- Spinal Cord, 2003, v. 41, n. 4, p. 220, doi. 10.1038/sj.sc.3101433
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- Publication type:
- Article
A comprehensive approach to the management of male infertility following spinal cord injury.
- Published in:
- Spinal Cord, 1999, v. 37, n. 7, p. 508, doi. 10.1038/sj.sc.3100866
- By:
- Publication type:
- Article
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 21, p. 3597, doi. 10.1093/hmg/ddac040
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- Publication type:
- Article
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6293, doi. 10.1093/hmg/ddv337
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- Publication type:
- Article
Training the interdisciplinary team in sexuality rehabilitation following spinal cord injury: a needs assessment.
- Published in:
- 2003
- By:
- Publication type:
- Journal Article
The development of a scale to assess the training needs of professionals in providing sexuality rehabilitation following spinal cord injury.
- Published in:
- 2003
- By:
- Publication type:
- Journal Article
Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma-specific t(X;18)(p11.2;q11.2) breakpoint.
- Published in:
- Genes, Chromosomes & Cancer, 1993, v. 6, n. 3, p. 182, doi. 10.1002/gcc.2870060309
- By:
- Publication type:
- Article
Direct Health Care Costs, Health Services Utilization, and Outcomes of Biliary Atresia: A Population-based Cohort Study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Taming the Paper Tiger: A Comparative Approach to Reforming Japanese Gender Equality Laws.
- Published in:
- Cornell International Law Journal, 2008, v. 41, n. 2, p. 503
- By:
- Publication type:
- Article
A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.
- Published in:
- 2011
- By:
- Publication type:
- Other
Back Cover, Volume 40, Issue 8.
- Published in:
- Human Mutation, 2019, v. 40, n. 8, p. ii, doi. 10.1002/humu.23893
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- Publication type:
- Article