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Velopharyngeal Characteristics in Aarskog–Scott Syndrome: A Case Report.
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- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 5, p. 892, doi. 10.1177/10556656221141235
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- Article
Chronic Granulomatous Disease of the Upper Airway.
- Published in:
- 2024
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- Publication type:
- Case Study
Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1395287
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- Article
Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
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- Journal of the Peripheral Nervous System, 2024, v. 29, n. 1, p. 111, doi. 10.1111/jns.12611
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- Article
Challenging the paradigm: a case of early-onset VEXAS syndrome.
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- Rheumatology, 2024, v. 63, n. 3, p. e99, doi. 10.1093/rheumatology/kead506
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- Article
Oral health and oral-health-related quality of life in people with X-linked hypophosphatemia.
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- BMC Oral Health, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12903-024-04028-9
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- Article
A Novel Splicing Mutation Leading to Wiskott-Aldrich Syndrome from a Family.
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- International Journal of Genomics, 2024, v. 2024, p. 1, doi. 10.1155/2024/2277956
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- Article
Chinese Pneumonia Outbreak 2023: Is It Reasonable to Be Concerned If the Illness is a Novel Strain of Disease X?
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- 2024
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- Publication type:
- Letter
Perspectives of carriers of X‐linked retinal diseases on genetic testing and gene therapy: A global survey.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 150, doi. 10.1111/cge.14442
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- Publication type:
- Article
Comparison of transcriptome-wide N<sup>6</sup>-methyladenosine profiles from healthy trio families reveals regulator-mediated methylation alterations.
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- Genetics, 2024, v. 226, n. 2, p. 1, doi. 10.1093/genetics/iyad206
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- Article
Prevalence and genotypic frequency of color vision defects among primary schoolchildren in Adama Town, Eastern Ethiopia.
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- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-04529-0
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- Article
Delayed Diagnosis of Perrault Syndrome: A Rare Genetic Disorder.
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- Case Reports in Medicine, 2024, p. 1, doi. 10.1155/2024/5319443
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- Publication type:
- Article
A rare case of family suffering from Simpson-Golabi-Behmel syndrome with an uncommon manifestation in a mother and 2 sons.
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- Polish Journal of Pediatrics / Pediatria Polska, 2024, v. 99, n. 1, p. 77, doi. 10.5114/polp.2023.131546
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- Publication type:
- Article
Prevalence and molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Senoi Malaysian Orang Asli population.
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- PLoS ONE, 2023, v. 18, n. 12, p. 1, doi. 10.1371/journal.pone.0294891
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- Publication type:
- Article
Not Always Sepsis: A Febrile Neonate With a Persistent Cough.
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- Clinical Pediatrics, 2023, v. 62, n. 12, p. 1607, doi. 10.1177/00099228231165656
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- Publication type:
- Article
A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care.
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- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 4, p. 431, doi. 10.4274/jcrpe.galenos.2022.2021-12-3
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- Article
Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families.
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- Journal of the Peripheral Nervous System, 2023, v. 28, n. 4, p. 614, doi. 10.1111/jns.12601
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- Publication type:
- Article
Electrochemical impedance biosensor based on Y chromosome–specific sequences for fetal sex determination.
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- Microchimica Acta, 2023, v. 190, n. 12, p. 1, doi. 10.1007/s00604-023-06061-x
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- Publication type:
- Article
Danon disease: Rare cause of cardiomyopathy.
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- Polish Heart Journal / Kardiologia Polska, 2023, v. 81, n. 12, p. 1288, doi. 10.33963/v.kp.97064
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- Publication type:
- Article
49 Case Study: Cognitive Deficits Associated with Norrie Disease.
- Published in:
- 2023
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- Publication type:
- Abstract
Cytopenia: a report of haplo-cord transplantation in twin brothers caused by a novel germline GATA1 mutation and family survey.
- Published in:
- Annals of Hematology, 2023, v. 102, n. 11, p. 3177, doi. 10.1007/s00277-023-05363-7
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- Publication type:
- Article
The Lived Experience of African American Persons with Cystic Fibrosis.
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- Creative Nursing, 2023, v. 29, n. 4, p. 374, doi. 10.1177/10784535231216461
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- Publication type:
- Article
A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report.
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- Iranian Journal of Medical Sciences, 2023, v. 48, n. 6, p. 606, doi. 10.30476/IJMS.2022.96392.2792
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- Publication type:
- Article
Abandoning the word Caucasian.
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- Journal of Genetic Counseling, 2023, v. 32, n. 5, p. 930, doi. 10.1002/jgc4.1730
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- Publication type:
- Article
Sex differences of burosumab in children with X-linked hypophosphataemic rickets.
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- Pediatric Nephrology, 2023, v. 38, n. 9, p. 3183, doi. 10.1007/s00467-022-05822-9
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- Publication type:
- Article
Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome.
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- PLoS ONE, 2023, v. 18, n. 8, p. 1, doi. 10.1371/journal.pone.0290832
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- Publication type:
- Article
Prevalence of papillary muscle hypertrophy in fabry disease.
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- BMC Cardiovascular Disorders, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12872-023-03463-w
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- Publication type:
- Article
Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients.
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- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01496-7
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- Publication type:
- Article
Thrombocytosis and eosinophilia in 32 Chinese neonatal incontinentia pigmenti.
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- International Journal of Dermatology, 2023, v. 62, n. 8, p. 1026, doi. 10.1111/ijd.16697
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- Publication type:
- Article
Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis.
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- Neuropathology & Applied Neurobiology, 2023, v. 49, n. 4, p. 1, doi. 10.1111/nan.12920
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- Article
Anesthesia management protocol for liver transplantation as treatment for ornithine transcarbamylase deficiency.
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- Pediatric Anesthesia, 2023, v. 33, n. 8, p. 620, doi. 10.1111/pan.14691
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- Publication type:
- Article
Low molecular weight proteinuria, congenital myopia and hearing loss in a 10-year-old boy: Answers.
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- Pediatric Nephrology, 2023, v. 38, n. 8, p. 2587, doi. 10.1007/s00467-023-05883-4
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- Publication type:
- Article
Membranous nephropathy in a female patient with X-linked thrombocytopenia.
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- Pediatric Nephrology, 2023, v. 38, n. 8, p. 2873, doi. 10.1007/s00467-022-05833-6
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- Publication type:
- Article
Case report: A case report of Alport syndrome caused by a novel mutation of COL4A5.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1216809
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- Publication type:
- Article
Anti-Adipogenic Activity of Rhaponticum carthamoides and Its Secondary Metabolites.
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- Nutrients, 2023, v. 15, n. 13, p. 3061, doi. 10.3390/nu15133061
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- Publication type:
- Article
Results from a first-in-human study of dersimelagon, an investigational oral selective MC1R agonist.
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- European Journal of Clinical Pharmacology, 2023, v. 79, n. 6, p. 801, doi. 10.1007/s00228-023-03476-6
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- Publication type:
- Article
Couple screening for recessively inherited disorders.
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- Journal of Medical Screening, 2023, v. 30, n. 2, p. 55, doi. 10.1177/09691413221137039
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- Publication type:
- Article
Reduction in mRNA Expression of the Neutrophil Chemoattract Factor CXCL1 in Pseudomonas aeruginosa Treated Barth Syndrome B Lymphoblasts.
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- Biology (2079-7737), 2023, v. 12, n. 5, p. 730, doi. 10.3390/biology12050730
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- Publication type:
- Article
Establishing a natural history of X-linked dystonia parkinsonism.
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- Brain Communications, 2023, v. 5, n. 3, p. 1, doi. 10.1093/braincomms/fcad106
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- Article
Incontinentia Pigmenti: A Case Report of Early Clinical Symptoms in a Lack of Family Inheritance Positive Result.
- Published in:
- 2023
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- Publication type:
- Case Study
Utilization of Glucose-6-Phosphate Dehydrogenase Test and the Prevalence of Enzyme Deficiency in Korea.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 9, p. 3179, doi. 10.3390/jcm12093179
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- Publication type:
- Article
Clinical development of novel therapies for Duchenne muscular dystrophy—Current and future.
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- Neurology & Clinical Neuroscience, 2023, v. 11, n. 3, p. 111, doi. 10.1111/ncn3.12691
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- Publication type:
- Article
Blaschkolinear angioma serpiginosum: a rare vascular anomaly.
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- Pigment International, 2023, v. 10, n. 2, p. 135, doi. 10.4103/pigmentinternational.pigmentinternational_28_21
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- Publication type:
- Article
Maternal Gonosomal Mosaicism Causes XIAP Deficiency.
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- Journal of Clinical Immunology, 2023, v. 43, n. 3, p. 525, doi. 10.1007/s10875-022-01414-2
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- Publication type:
- Article
Investigation of 11p15.5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients.
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- Cancers, 2023, v. 15, n. 6, p. 1872, doi. 10.3390/cancers15061872
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- Publication type:
- Article
Decline in health-related quality of life and foot and ankle patient reported outcomes measures in patients with haemophilia and ankle haemarthropathy.
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- Journal of Foot & Ankle Research, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13047-023-00611-5
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- Publication type:
- Article
Associating brain imaging phenotypes and genetic risk factors via a hypergraph based netNMF method.
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- Frontiers in Aging Neuroscience, 2023, v. 15, p. 1, doi. 10.3389/fnagi.2023.1052783
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- Publication type:
- Article
Association of Combined Exposure to Ambient Air Pollutants, Genetic Risk, and Incident Rheumatoid Arthritis: A Prospective Cohort Study in the UK Biobank.
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- Environmental Health Perspectives, 2023, v. 131, n. 3, p. 037008-1, doi. 10.1289/EHP10710
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- Publication type:
- Article
Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment.
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- Journal of Autism & Developmental Disorders, 2023, v. 53, n. 3, p. 1091, doi. 10.1007/s10803-022-05636-6
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- Publication type:
- Article
X-linked hypophosphatemia, obesity and arterial hypertension: data from the XLH21 study.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 3, p. 697, doi. 10.1007/s00467-022-05636-9
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- Publication type:
- Article