Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 3
Results: 56
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 836, doi. 10.1002/ajmg.a.62066
- By:
- Publication type:
- Article
Confirming the involvement of PIEZO2 in the etiology of Marden–Walker syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 945, doi. 10.1002/ajmg.a.62052
- By:
- Publication type:
- Article
Interdisciplinary care of children with trisomy 13 and 18.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 966, doi. 10.1002/ajmg.a.62051
- By:
- Publication type:
- Article
Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 937, doi. 10.1002/ajmg.a.62050
- By:
- Publication type:
- Article
Clinical presentation and evolution of Xia‐Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 990, doi. 10.1002/ajmg.a.62049
- By:
- Publication type:
- Article
Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 930, doi. 10.1002/ajmg.a.62048
- By:
- Publication type:
- Article
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 955, doi. 10.1002/ajmg.a.62047
- By:
- Publication type:
- Article
Craniofacial and occlusal features of children with Noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 820, doi. 10.1002/ajmg.a.62046
- By:
- Publication type:
- Article
Stargardt misdiagnosis: How ocular genetics helps.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 814, doi. 10.1002/ajmg.a.62045
- By:
- Publication type:
- Article
A validated model for prediction of survival to 6 months in patients with trisomy 13 and 18.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 806, doi. 10.1002/ajmg.a.62044
- By:
- Publication type:
- Article
Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 798, doi. 10.1002/ajmg.a.62043
- By:
- Publication type:
- Article
A case of White–Sutton syndrome with previously described loss‐of‐function variant in DDE domain of POGZ (p.Arg1211*) and Kartagener syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 1006, doi. 10.1002/ajmg.a.62042
- By:
- Publication type:
- Article
Sertraline as a treatment option for temper outbursts in Prader–Willi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 790, doi. 10.1002/ajmg.a.62041
- By:
- Publication type:
- Article
Distinctive facial features in Andersen–Tawil syndrome: A three‐dimensional stereophotogrammetric analysis.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 781, doi. 10.1002/ajmg.a.62040
- By:
- Publication type:
- Article
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 774, doi. 10.1002/ajmg.a.62039
- By:
- Publication type:
- Article
Metacarpophalangeal pattern profile analysis for a 3‐month‐old infant with Feingold syndrome 2.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 952, doi. 10.1002/ajmg.a.62038
- By:
- Publication type:
- Article
TBX5‐encoded T‐box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 923, doi. 10.1002/ajmg.a.62037
- By:
- Publication type:
- Article
Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 916, doi. 10.1002/ajmg.a.62036
- By:
- Publication type:
- Article
Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31‐year‐old woman.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 995, doi. 10.1002/ajmg.a.62035
- By:
- Publication type:
- Article
Dual molecular diagnoses in a neurometabolic specialty clinic.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 766, doi. 10.1002/ajmg.a.62034
- By:
- Publication type:
- Article
Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 999, doi. 10.1002/ajmg.a.62027
- By:
- Publication type:
- Article
Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 901, doi. 10.1002/ajmg.a.62026
- By:
- Publication type:
- Article
Prevalence and risk factors of radial ray deficiencies: A population‐based case–control study.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 759, doi. 10.1002/ajmg.a.62033
- By:
- Publication type:
- Article
ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 743, doi. 10.1002/ajmg.a.62030
- By:
- Publication type:
- Article
Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 732, doi. 10.1002/ajmg.a.62029
- By:
- Publication type:
- Article
Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 719, doi. 10.1002/ajmg.a.62028
- By:
- Publication type:
- Article
Cardiac evaluation of patients with 22q11.2 duplication syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 753, doi. 10.1002/ajmg.a.62032
- By:
- Publication type:
- Article
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 909, doi. 10.1002/ajmg.a.62031
- By:
- Publication type:
- Article
Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 894, doi. 10.1002/ajmg.a.62025
- By:
- Publication type:
- Article
Two loss‐of‐function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 710, doi. 10.1002/ajmg.a.62024
- By:
- Publication type:
- Article
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss‐of‐function variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 889, doi. 10.1002/ajmg.a.62023
- By:
- Publication type:
- Article
Insight versus hindsight: What we have learned after 17 years of research with sex chromosome abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 1004, doi. 10.1002/ajmg.a.62022
- By:
- Publication type:
- Article
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37‐PACS1‐PACS2 axis.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 884, doi. 10.1002/ajmg.a.62020
- By:
- Publication type:
- Article
A pilot clinical trial with losartan in Myhre syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 702, doi. 10.1002/ajmg.a.62019
- By:
- Publication type:
- Article
Quality of life in adults with achondroplasia in the United States.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 695, doi. 10.1002/ajmg.a.62018
- By:
- Publication type:
- Article
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 877, doi. 10.1002/ajmg.a.62017
- By:
- Publication type:
- Article
Successful pregnancies in an adult with Meier‐Gorlin syndrome harboring biallelic CDT1 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 871, doi. 10.1002/ajmg.a.62016
- By:
- Publication type:
- Article
Carpenter syndrome in a patient from Tanzania.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 986, doi. 10.1002/ajmg.a.62015
- By:
- Publication type:
- 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".
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 1008, doi. 10.1002/ajmg.a.62014
- By:
- Publication type:
- Article
A de novo ATXN2L variant in a child with developmental delay and macrocephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 949, doi. 10.1002/ajmg.a.62007
- By:
- Publication type:
- Article
Ciliopathies: Coloring outside of the lines.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 687, doi. 10.1002/ajmg.a.62013
- By:
- Publication type:
- Article
CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 827, doi. 10.1002/ajmg.a.62011
- By:
- Publication type:
- Article
Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 856, doi. 10.1002/ajmg.a.62010
- By:
- Publication type:
- Article
Aplasia cutis congenita in a CDC42‐related developmental phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 850, doi. 10.1002/ajmg.a.62009
- By:
- Publication type:
- Article
Koolen‐de Vries syndrome: First report of two unrelated Indian patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 982, doi. 10.1002/ajmg.a.62008
- By:
- Publication type:
- Article
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.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 866, doi. 10.1002/ajmg.a.62012
- By:
- Publication type:
- Article
Koolen‐de Vries syndrome in the first adulthood patient of Southern India ancestry.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 978, doi. 10.1002/ajmg.a.62006
- By:
- Publication type:
- Article
PIGO variants in a boy with features of Mabry syndrome who also exhibits Fryns syndrome with peripheral neuropathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 845, doi. 10.1002/ajmg.a.62005
- By:
- Publication type:
- Article
Intraperitoneal bladder rupture in a young child with vascular Ehlers‐Danlos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 841, doi. 10.1002/ajmg.a.62004
- By:
- Publication type:
- Article
Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 675, doi. 10.1002/ajmg.a.62003
- By:
- Publication type:
- Article