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A validated model for prediction of survival to 6 months in patients with trisomy 13 and 18.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 806, doi. 10.1002/ajmg.a.62044
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Sertraline as a treatment option for temper outbursts in Prader–Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 790, doi. 10.1002/ajmg.a.62041
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Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 909, doi. 10.1002/ajmg.a.62031
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Successful pregnancies in an adult with Meier‐Gorlin syndrome harboring biallelic CDT1 variants.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 871, doi. 10.1002/ajmg.a.62016
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- Article
Carpenter syndrome in a patient from Tanzania.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 986, doi. 10.1002/ajmg.a.62015
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Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 836, doi. 10.1002/ajmg.a.62066
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Confirming the involvement of PIEZO2 in the etiology of Marden–Walker syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 945, doi. 10.1002/ajmg.a.62052
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Interdisciplinary care of children with trisomy 13 and 18.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 966, doi. 10.1002/ajmg.a.62051
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Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 937, doi. 10.1002/ajmg.a.62050
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Clinical presentation and evolution of Xia‐Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 990, doi. 10.1002/ajmg.a.62049
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Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 930, doi. 10.1002/ajmg.a.62048
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Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 955, doi. 10.1002/ajmg.a.62047
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- Article
Craniofacial and occlusal features of children with Noonan syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 820, doi. 10.1002/ajmg.a.62046
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- Article
Stargardt misdiagnosis: How ocular genetics helps.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 814, doi. 10.1002/ajmg.a.62045
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- Article
Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 798, doi. 10.1002/ajmg.a.62043
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A case of White–Sutton syndrome with previously described loss‐of‐function variant in DDE domain of POGZ (p.Arg1211*) and Kartagener syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 1006, doi. 10.1002/ajmg.a.62042
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- Article
Distinctive facial features in Andersen–Tawil syndrome: A three‐dimensional stereophotogrammetric analysis.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 781, doi. 10.1002/ajmg.a.62040
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Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 774, doi. 10.1002/ajmg.a.62039
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- Article
Metacarpophalangeal pattern profile analysis for a 3‐month‐old infant with Feingold syndrome 2.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 952, doi. 10.1002/ajmg.a.62038
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TBX5‐encoded T‐box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 923, doi. 10.1002/ajmg.a.62037
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Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 916, doi. 10.1002/ajmg.a.62036
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Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31‐year‐old woman.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 995, doi. 10.1002/ajmg.a.62035
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Dual molecular diagnoses in a neurometabolic specialty clinic.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 766, doi. 10.1002/ajmg.a.62034
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Prevalence and risk factors of radial ray deficiencies: A population‐based case–control study.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 759, doi. 10.1002/ajmg.a.62033
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Cardiac evaluation of patients with 22q11.2 duplication syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 753, doi. 10.1002/ajmg.a.62032
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ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 743, doi. 10.1002/ajmg.a.62030
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Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 732, doi. 10.1002/ajmg.a.62029
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Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 719, doi. 10.1002/ajmg.a.62028
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Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 999, doi. 10.1002/ajmg.a.62027
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Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 901, doi. 10.1002/ajmg.a.62026
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Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 894, doi. 10.1002/ajmg.a.62025
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- Article
Two loss‐of‐function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 710, doi. 10.1002/ajmg.a.62024
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Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss‐of‐function variants.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 889, doi. 10.1002/ajmg.a.62023
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Insight versus hindsight: What we have learned after 17 years of research with sex chromosome abnormalities.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 1004, doi. 10.1002/ajmg.a.62022
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Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37‐PACS1‐PACS2 axis.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 884, doi. 10.1002/ajmg.a.62020
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A pilot clinical trial with losartan in Myhre syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 702, doi. 10.1002/ajmg.a.62019
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Quality of life in adults with achondroplasia in the United States.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 695, doi. 10.1002/ajmg.a.62018
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- Article
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 877, doi. 10.1002/ajmg.a.62017
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Table of Contents, Volume 185A, Number 3, March 2021.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 661, doi. 10.1002/ajmg.a.61655
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- Article
Corrigendum to "Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III. Am J Med Genet Part A. 2020;182A:1190–1,200".
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 1008, doi. 10.1002/ajmg.a.62014
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- Article
Ciliopathies: Coloring outside of the lines.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 687, doi. 10.1002/ajmg.a.62013
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Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 866, doi. 10.1002/ajmg.a.62012
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CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 827, doi. 10.1002/ajmg.a.62011
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Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 856, doi. 10.1002/ajmg.a.62010
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- Article
Aplasia cutis congenita in a CDC42‐related developmental phenotype.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 850, doi. 10.1002/ajmg.a.62009
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Koolen‐de Vries syndrome: First report of two unrelated Indian patients.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 982, doi. 10.1002/ajmg.a.62008
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- Article
A de novo ATXN2L variant in a child with developmental delay and macrocephaly.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 949, doi. 10.1002/ajmg.a.62007
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- Article
Koolen‐de Vries syndrome in the first adulthood patient of Southern India ancestry.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 978, doi. 10.1002/ajmg.a.62006
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PIGO variants in a boy with features of Mabry syndrome who also exhibits Fryns syndrome with peripheral neuropathy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 845, doi. 10.1002/ajmg.a.62005
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- Article
Intraperitoneal bladder rupture in a young child with vascular Ehlers‐Danlos syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 841, doi. 10.1002/ajmg.a.62004
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- Article