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Gynecologic health in cartilage‐hair hypoplasia: A survey of 26 adult females.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 190, doi. 10.1002/ajmg.a.60684
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- Article
COMMENTARY—The Saul–Wilson syndrome from its early days until now.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 159, doi. 10.1002/ajmg.a.8
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- Article
Cover Image, Volume 179A, Number 2, February 2019.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. i, doi. 10.1002/ajmg.a.61059
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In This Issue.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 149, doi. 10.1002/ajmg.a.61042
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- Article
De Novo Mutations have Variable Recurrences Within Families.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 147, doi. 10.1002/ajmg.a.61041
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- Article
Cornelia de Lange syndrome in diverse populations.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 150, doi. 10.1002/ajmg.a.61033
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POLR3A Identified as Major Locus for Autosomal Recessive Wiedemann‐Rautenstrauch Syndrome: New findings show "compelling evidence" that POLR3A mutations underlie the etiology of autosomal‐recessive WRS.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 146, doi. 10.1002/ajmg.a.61040
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- Article
Simpson–Golabi–Behmel syndrome in a 39‐year‐old male patient with suspected acromegaly—A case study.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 322, doi. 10.1002/ajmg.a.61013
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GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 237, doi. 10.1002/ajmg.a.61021
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A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 249, doi. 10.1002/ajmg.a.61012
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Many newborns in level IV NICUs are eligible for rapid DNA sequencing.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 280, doi. 10.1002/ajmg.a.61011
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- Article
Primary muscle involvement in a 15‐year‐old girl with the recurrent homozygous c.362dupC variant in FKBP14.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 317, doi. 10.1002/ajmg.a.61006
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- Article
Parents' perceptions of functional abilities in people with Down syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 161, doi. 10.1002/ajmg.a.61004
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- Article
Twenty‐four‐hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith–Magenis syndrome, a neurodevelopmental disorder.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 224, doi. 10.1002/ajmg.a.61003
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SCAPER‐associated nonsyndromic autosomal recessive retinitis pigmentosa.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 312, doi. 10.1002/ajmg.a.61001
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- Article
A novel case of Greenberg dysplasia and genotype–phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene‐multiple phenotypes.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 306, doi. 10.1002/ajmg.a.61000
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Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 295, doi. 10.1002/ajmg.a.60700
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- Article
The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 300, doi. 10.1002/ajmg.a.60698
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Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 219, doi. 10.1002/ajmg.a.60696
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- Article
A homozygous MITF mutation leads to familial Waardenburg syndrome type 4.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 243, doi. 10.1002/ajmg.a.60693
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Cenani–Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 266, doi. 10.1002/ajmg.a.60694
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- Article
Novel truncating variants expand the phenotypic spectrum of KAT6B‐related disorders.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 290, doi. 10.1002/ajmg.a.60689
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A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 206, doi. 10.1002/ajmg.a.60690
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Contributing factors of mortality in Prader–Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 196, doi. 10.1002/ajmg.a.60688
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Will the real Moebius syndrome please stand up? A systematic review of the literature and statistical cluster analysis of clinical features.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 257, doi. 10.1002/ajmg.a.60683
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Simpson–Golabi–Behmel syndrome with 46,XY disorders of sex development: A case report.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 285, doi. 10.1002/ajmg.a.40669
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Publication schedule for 2019.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 145, doi. 10.1002/ajmg.a.40437
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- Article
Table of Contents, Volume 179A, Number 2, February 2019.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 141, doi. 10.1002/ajmg.a.40436
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- Article
High‐level language competencies and Theory of Mind in a group of children with Klinefelter syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 183, doi. 10.1002/ajmg.a.12
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Clinical identification of feeding and swallowing disorders in 0–6 month old infants with Down syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 177, doi. 10.1002/ajmg.a.11
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