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Cover Image, Volume 191A, Number 3, March 2023.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. i, doi. 10.1002/ajmg.a.63136
- Publication type:
- Article
Correction to "Expanding phenotype of FAM111B‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym".
- Published in:
- 2023
- Publication type:
- Correction Notice
Correction to "TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition".
- Published in:
- 2023
- Publication type:
- Correction Notice
Correction to "Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant".
- Published in:
- 2023
- Publication type:
- Correction Notice
Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 742, doi. 10.1002/ajmg.a.63069
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- Article
5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 835, doi. 10.1002/ajmg.a.63068
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- Publication type:
- Article
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 699, doi. 10.1002/ajmg.a.63062
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- Publication type:
- Article
A novel homozygous nonsense NDNF variant in Kallmann syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 831, doi. 10.1002/ajmg.a.63066
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- Publication type:
- Article
Rare diseases of ectoderm: Translating discovery to therapy.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 902, doi. 10.1002/ajmg.a.63090
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- Publication type:
- Article
Complex congenital cardiovascular anomaly in a patient with AGO1‐associated disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 882, doi. 10.1002/ajmg.a.63089
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- Publication type:
- Article
Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 813, doi. 10.1002/ajmg.a.63088
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- Publication type:
- Article
Acute myeloid leukemia associated with CHARGE syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 878, doi. 10.1002/ajmg.a.63087
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- Publication type:
- Article
Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 896, doi. 10.1002/ajmg.a.63086
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- Publication type:
- Article
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 870, doi. 10.1002/ajmg.a.63085
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- Publication type:
- Article
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4‐related leukoencephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 864, doi. 10.1002/ajmg.a.63084
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- Publication type:
- Article
First case of desmosterolosis diagnosed by prenatal whole exome sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 859, doi. 10.1002/ajmg.a.63083
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- Publication type:
- Article
A novel variant of ARPC4‐related neurodevelopmental disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 893, doi. 10.1002/ajmg.a.63082
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- Publication type:
- Article
Patterns of co‐occurring birth defects in children with anotia and microtia.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 805, doi. 10.1002/ajmg.a.63081
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- Publication type:
- Article
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 794, doi. 10.1002/ajmg.a.63080
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- Publication type:
- Article
Fatal gastrointestinal complications in Pitt‐Hopkins syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 855, doi. 10.1002/ajmg.a.63079
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- Publication type:
- Article
SHORT syndrome with microcephaly and developmental delay.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 850, doi. 10.1002/ajmg.a.63078
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- Publication type:
- Article
Retinal detachment in Loeys–Dietz syndrome.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 846, doi. 10.1002/ajmg.a.63077
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- Publication type:
- Article
Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 842, doi. 10.1002/ajmg.a.63076
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- Publication type:
- Article
Siblings with profound connective tissue disease: First report of biallelic TGFBR1‐related Loeys‐Dietz syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 786, doi. 10.1002/ajmg.a.63075
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- Publication type:
- Article
Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 776, doi. 10.1002/ajmg.a.63074
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- Publication type:
- Article
Autosomal dominant inheritance with sex‐limited manifestation: An unusual mode of transmission in humans and animals.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 684, doi. 10.1002/ajmg.a.63073
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- Publication type:
- Article
Financial impact of a specialized Down syndrome clinic: Implications and support for institutional support of specialty care clinics.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 770, doi. 10.1002/ajmg.a.63072
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- Publication type:
- Article
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 760, doi. 10.1002/ajmg.a.63071
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- Publication type:
- Article
Benign goiters requiring thyroidectomy as the signal for PTEN hamartoma tumor syndrome diagnosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 753, doi. 10.1002/ajmg.a.63070
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- Publication type:
- Article
Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 730, doi. 10.1002/ajmg.a.63067
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- Publication type:
- Article
Expansion of the genotypic and phenotypic spectrum of CTCF‐related disorder guides clinical management: 43 new subjects and a comprehensive literature review.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 718, doi. 10.1002/ajmg.a.63065
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- Publication type:
- Article
Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 823, doi. 10.1002/ajmg.a.63061
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- Publication type:
- Article
Pompe's Disease Successfully Treated In Utero.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 654, doi. 10.1002/ajmg.a.62795
- Publication type:
- Article
Inversions on human chromosomes.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 672, doi. 10.1002/ajmg.a.63063
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- Publication type:
- Article
Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 711, doi. 10.1002/ajmg.a.63064
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- Publication type:
- Article
Personal social networks of people with Down syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 690, doi. 10.1002/ajmg.a.63059
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- Publication type:
- Article
Perspectives on the future of dysmorphology.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 659, doi. 10.1002/ajmg.a.63060
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- Publication type:
- Article
Superimposed mosaicism in cutaneous sarcoidosis: A hypothesis.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 899, doi. 10.1002/ajmg.a.63058
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- Publication type:
- Article
Publication schedule for 2023.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 653, doi. 10.1002/ajmg.a.62794
- Publication type:
- Article
New Mitochondrial Disease Identified In Monozygotic Twin Boys.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 655, doi. 10.1002/ajmg.a.62796
- Publication type:
- Article
In This Issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 657, doi. 10.1002/ajmg.a.62797
- Publication type:
- Article
Table of Contents, Volume 191A, Number 3, March 2023.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 647, doi. 10.1002/ajmg.a.62793
- Publication type:
- Article