Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 9
Results: 46
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2738, doi. 10.1002/ajmg.a.62893
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High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2599, doi. 10.1002/ajmg.a.62892
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Acute myeloid leukemia and dilated cardiomyopathy in a pediatric patient with D‐2‐hydroxyglutaric aciduria type I.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2707, doi. 10.1002/ajmg.a.62891
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Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2584, doi. 10.1002/ajmg.a.62890
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Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2718, doi. 10.1002/ajmg.a.62889
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A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2701, doi. 10.1002/ajmg.a.62888
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Clinical and molecular features of patients with COL1‐related disorders: Implications for the wider spectrum and the risk of vascular complications.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2560, doi. 10.1002/ajmg.a.62887
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Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2760, doi. 10.1002/ajmg.a.62886
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Detecting pathogenic deep intronic variants in Gitelman syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2576, doi. 10.1002/ajmg.a.62885
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Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2627, doi. 10.1002/ajmg.a.62884
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Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2819, doi. 10.1002/ajmg.a.62883
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Carrier screening for Krabbe disease in an isolated inbred community.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2555, doi. 10.1002/ajmg.a.62882
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Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2724, doi. 10.1002/ajmg.a.62881
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Functional validation of novel variants in B4GALNT1 associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2590, doi. 10.1002/ajmg.a.62880
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Fibrous dysplasia in cardio‐facio‐cutaneous syndrome: A case report and review of literature.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2732, doi. 10.1002/ajmg.a.62879
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Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegias.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2712, doi. 10.1002/ajmg.a.62878
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Prepubertal onset of type 2 diabetes in Shashi–Pena syndrome due to ASXL2 mutation.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2803, doi. 10.1002/ajmg.a.62876
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Letter to the Editor Regarding Lavanya et al. A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2832, doi. 10.1002/ajmg.a.62875
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Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2796, doi. 10.1002/ajmg.a.62869
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PIEZO2‐related distal arthrogryposis type 5: Longitudinal follow‐up of a three‐generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2790, doi. 10.1002/ajmg.a.62868
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The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2536, doi. 10.1002/ajmg.a.62867
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Pathogenic variants in CASK: Expanding the genotype–phenotype correlations.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2617, doi. 10.1002/ajmg.a.62863
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A Novel nonsense variant in the CDH2 gene associated with ACOGS: A case report.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2815, doi. 10.1002/ajmg.a.62861
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Understanding barriers to diagnosis in a rare, genetic disease: Delays and errors in diagnosing schwannomatosis.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2672, doi. 10.1002/ajmg.a.62860
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Pain and fatigue in adults with Loeys–Dietz syndrome and vascular Ehlers–Danlos syndrome, a questionnaire‐based study.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2605, doi. 10.1002/ajmg.a.62858
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Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria, and severe intellectual disability in a Pakhtun family.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2693, doi. 10.1002/ajmg.a.62856
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PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2825, doi. 10.1002/ajmg.a.62855
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Nonsyndromic arteriopathy and aortopathy and vascular Ehlers–Danlos syndrome causing COL3A1 variants.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2777, doi. 10.1002/ajmg.a.62774
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Tuberous sclerosis complex‐associated nonfunctional pancreatic neuroendocrine tumors: Management and surgical outcomes.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2666, doi. 10.1002/ajmg.a.62850
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Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS‐related disorders.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2783, doi. 10.1002/ajmg.a.62848
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Undiagnosed disease program in South Africa: Results from first 100 exomes.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2684, doi. 10.1002/ajmg.a.62847
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Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2642, doi. 10.1002/ajmg.a.62779
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TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2652, doi. 10.1002/ajmg.a.62852
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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2750, doi. 10.1002/ajmg.a.62772
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Single‐center real‐life experience with testosterone treatment in adult men with Prader–Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2637, doi. 10.1002/ajmg.a.62770
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Hepatoblastoma in molecularly defined, congenital diseases.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2527, doi. 10.1002/ajmg.a.62767
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MYH7 variants cause complex congenital heart disease.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2772, doi. 10.1002/ajmg.a.62766
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NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2834, doi. 10.1002/ajmg.a.62764
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- Article
Late‐onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2766, doi. 10.1002/ajmg.a.62761
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Third reported patient with RAP1B‐related syndromic thrombocytopenia and novel clinical findings.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2808, doi. 10.1002/ajmg.a.62760
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Cover Image, Volume 188A, Number 9, September 2022.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. i, doi. 10.1002/ajmg.a.62318
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- Article
In This Issue.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2525, doi. 10.1002/ajmg.a.62317
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- Article
Long‐Read Sequencing Allows Increased Detection of De Novo Mutations.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2523, doi. 10.1002/ajmg.a.62316
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Advances in Genomic Technologies Change High‐Risk Testing for Breast And Colorectal Cancer.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2522, doi. 10.1002/ajmg.a.62315
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- Article
Publication schedule for 2022.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2521, doi. 10.1002/ajmg.a.62314
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Table of Contents, Volume 188A, Number 9, September 2022.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2515, doi. 10.1002/ajmg.a.62313
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- Article