Found: 41
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Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1666, doi. 10.1002/ajmg.a.62129
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A case of Ververi‐Brady syndrome due to QRICH1 loss of function and the literature review.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1913, doi. 10.1002/ajmg.a.62184
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Patterns of congenital anomalies among individuals with trisomy 13 in Texas.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1787, doi. 10.1002/ajmg.a.62175
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The mystery of monozygotic twinning II: What can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning?
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1822, doi. 10.1002/ajmg.a.62177
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Natural history study of adults with Wolf–Hirschhorn syndrome 1: Case series of personally observed 35 individuals.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1794, doi. 10.1002/ajmg.a.62176
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Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1908, doi. 10.1002/ajmg.a.62183
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Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1903, doi. 10.1002/ajmg.a.62182
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Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1803, doi. 10.1002/ajmg.a.62181
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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1649, doi. 10.1002/ajmg.a.62124
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First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1897, doi. 10.1002/ajmg.a.62180
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Further expanding the mutational spectrum of brain abnormalities, neurodegeneration, and dysosteosclerosis: A rare disorder with neurologic regression and skeletal features.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1888, doi. 10.1002/ajmg.a.62179
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Recurrent ganglioneuroma in PTPN11‐associated Noonan syndrome: A case report and literature review.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1883, doi. 10.1002/ajmg.a.62178
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Management of COVID‐19 infection in organic acidemias.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1854, doi. 10.1002/ajmg.a.62161
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- Article
The mystery of monozygotic twinning I: What can Amyoplasia tell us about monozygotic twinning and the possible role of twin–twin transfusion?
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1816, doi. 10.1002/ajmg.a.62172
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R3HDM1 haploinsufficiency is associated with mild intellectual disability.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1776, doi. 10.1002/ajmg.a.62173
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Genetic and metabolic investigations for individuals with neurodevelopmental disorders: A survey of Canadian geneticists' practices.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1757, doi. 10.1002/ajmg.a.62167
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Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1870, doi. 10.1002/ajmg.a.62170
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A novel MPLKIP‐variant in three Finnish patients with non‐photosensitive trichothiodystrophy type 4.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1875, doi. 10.1002/ajmg.a.62168
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Specialty clinics for adults with Down syndrome: A clinic survey.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1767, doi. 10.1002/ajmg.a.62169
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A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1864, doi. 10.1002/ajmg.a.62166
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Birt‐Hogg‐Dubé symptoms in Smith‐Magenis syndrome include pediatric‐onset pneumothorax.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1922, doi. 10.1002/ajmg.a.62159
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A novel microduplication in INPP5A segregates with schizophrenia spectrum disorder in the family of a patient with both childhood onset schizophrenia and autism spectrum disorder.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1841, doi. 10.1002/ajmg.a.62155
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Parent‐reported histories of adults with trisomy 13 syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1743, doi. 10.1002/ajmg.a.62165
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An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks‐Innes syndrome).
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1925, doi. 10.1002/ajmg.a.62164
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The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1858, doi. 10.1002/ajmg.a.62163
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Trends in the prenatal diagnosis of trisomy 21 show younger maternal age and shift in the distribution of congenital heart disease over a 20‐year period.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1732, doi. 10.1002/ajmg.a.62162
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A novel homozygous RIPK4 variant in a family with severe Bartsocas‐Papas syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1691, doi. 10.1002/ajmg.a.62154
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Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1848, doi. 10.1002/ajmg.a.62160
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Cover Image, Volume 185A, Number 6, June 2021.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. i, doi. 10.1002/ajmg.a.61678
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- Article
Investigation of (epi)genotype causes and follow‐up manifestations in the patients with classical and atypical phenotype of Beckwith‐Wiedemann spectrum.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1721, doi. 10.1002/ajmg.a.62158
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Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1712, doi. 10.1002/ajmg.a.62157
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Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1700, doi. 10.1002/ajmg.a.62156
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A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1918, doi. 10.1002/ajmg.a.62153
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Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1836, doi. 10.1002/ajmg.a.62152
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The society for craniofacial genetics and developmental biology 43rd annual meeting.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1932, doi. 10.1002/ajmg.a.62150
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Clinical and genetic characterization of PYROXD1‐related myopathy patients from Turkey.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1678, doi. 10.1002/ajmg.a.62148
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In This Issue.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1648, doi. 10.1002/ajmg.a.61677
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- Article
Conference Attendees Give Thumbs up to Virtual Meetings.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1646, doi. 10.1002/ajmg.a.61676
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- Article
New Framework Developed for Polygenic Risk Score Reporting.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1645, doi. 10.1002/ajmg.a.61675
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- Article
Publication schedule for 2021.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1644, doi. 10.1002/ajmg.a.61674
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- Article
Table of Contents, Volume 185A, Number 6, June 2021.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1639, doi. 10.1002/ajmg.a.61673
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- Article