Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 1
Results: 45
Expanding the spectrum of ADNP‐related disorder‐Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 275, doi. 10.1002/ajmg.a.63017
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Diagnostic deserts: Community‐level barriers to appropriate genetics services.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 296, doi. 10.1002/ajmg.a.63016
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Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole‐exome sequencing.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 205, doi. 10.1002/ajmg.a.63015
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Identifying syndromes in studies of structural birth defects: Guidance on classification and evaluation of potential impact.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 190, doi. 10.1002/ajmg.a.63014
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Hajdu‐Cheney syndrome with atypical cardiovascular abnormalities.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 271, doi. 10.1002/ajmg.a.63013
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New clinical features in an adult patient with Skraban‐Deardorff syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 306, doi. 10.1002/ajmg.a.63012
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Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 183, doi. 10.1002/ajmg.a.63011
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A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 173, doi. 10.1002/ajmg.a.63010
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A multicenter study to evaluate pain characteristics in osteogenesis imperfecta.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 160, doi. 10.1002/ajmg.a.63009
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X‐Linked intellectual disability update 2022.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 144, doi. 10.1002/ajmg.a.63008
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Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 265, doi. 10.1002/ajmg.a.63007
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Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 259, doi. 10.1002/ajmg.a.63006
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Keratitis‐ichthyosis‐deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 253, doi. 10.1002/ajmg.a.63005
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Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 135, doi. 10.1002/ajmg.a.63004
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Teaching perspectives on the communication of difficult news of genetic conditions to medical students.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 299, doi. 10.1002/ajmg.a.63003
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Mosaic Williams syndrome: A case report.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 249, doi. 10.1002/ajmg.a.63002
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Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 77, doi. 10.1002/ajmg.a.62989
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Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 130, doi. 10.1002/ajmg.a.63001
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Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 234, doi. 10.1002/ajmg.a.62999
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A case with cardiac, skeletal, speech, and motor traits narrows the subtelomeric 19p13.3 microdeletion region to 46 kb.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 120, doi. 10.1002/ajmg.a.62998
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Long‐read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 112, doi. 10.1002/ajmg.a.62997
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A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 228, doi. 10.1002/ajmg.a.62996
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Muscle spasms as presenting feature of Nivelon‐Nivelon‐Mabile syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 238, doi. 10.1002/ajmg.a.63000
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Analysis of electrocardiograms in individuals with CDKL5 deficiency disorder.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 108, doi. 10.1002/ajmg.a.62995
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Expanding the phenotype of ASXL3‐related syndrome: a comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Am J Med Genet A. 2021;185A(11):3446–3458. Doi:10.1002/ajmg.a.62465″.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 310, doi. 10.1002/ajmg.a.62993
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Cornelia de Lange syndrome and cancer: An open question.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 292, doi. 10.1002/ajmg.a.62992
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ALDH1A2‐related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 90, doi. 10.1002/ajmg.a.62991
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Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 84, doi. 10.1002/ajmg.a.62990
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A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 100, doi. 10.1002/ajmg.a.62994
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ERI1: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 64, doi. 10.1002/ajmg.a.62987
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Epilepsy in Coffin–Siris syndrome: A report from the international CSS registry and review of the literature.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 22, doi. 10.1002/ajmg.a.62979
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Scope of coverage of medical genetics and genomics in pre‐clerkship programs of Canadian faculties of medicine: A curriculum analysis.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 13, doi. 10.1002/ajmg.a.62978
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In This Issue.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 11, doi. 10.1002/ajmg.a.62787
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- Article
Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 70, doi. 10.1002/ajmg.a.62988
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New Autism Genes Identified in Largest Study to Date.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 8, doi. 10.1002/ajmg.a.62785
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- Article
Incidental Variants Associated with Pathogenesis in Dilated Cardiomyopathy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 9, doi. 10.1002/ajmg.a.62786
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- Article
A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 220, doi. 10.1002/ajmg.a.62986
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Homozygous THAP1 pathogenic variant causes early onset multifocal dystonia with severe oromandibular/laryngeal dysfunction.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 289, doi. 10.1002/ajmg.a.62985
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Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot‐spot: Two additional Italian patients.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 284, doi. 10.1002/ajmg.a.62984
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Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 52, doi. 10.1002/ajmg.a.62983
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Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 37, doi. 10.1002/ajmg.a.62982
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Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 29, doi. 10.1002/ajmg.a.62981
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Precocious puberty and anal stenosis in an African patient with Rothmund–Thomson syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 280, doi. 10.1002/ajmg.a.62980
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Publication schedule for 2023.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 7, doi. 10.1002/ajmg.a.62784
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Table of Contents, Volume 191A, Number 1 January 2023.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 1, doi. 10.1002/ajmg.a.62783
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- Article