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DNA Methylation Possible Adjunct to Screening for Neurodevelopmental Syndromes: DNA methylation signatures were identified for several neurodevelopmental Mendelian disorders, and hold promise as a supplement to standard procedures for screening and detection of these diseases
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 755, doi. 10.1002/ajmg.a.38670
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- Article
Challenges associated with parenting youth with neurofibromatosis: A qualitative investigation.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 959, doi. 10.1002/ajmg.a.38640
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Cover Image, Volume 176A, Number 4, April 2018.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1, doi. 10.1002/ajmg.a.38671
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- Article
Patients Express Satisfaction, Understanding of Whole‐Genome Sequencing: In primary care and cardiology, patients were generally satisfied with their physicians' communication of WGS results, but expectations about its clinical benefits were not met
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 754, doi. 10.1002/ajmg.a.38669
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- Article
Associations between laterality of orofacial clefts and medical and academic outcomes.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1037, doi. 10.1002/ajmg.a.38663
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Isosorbide dinitrate in nephronophthisis treatment.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1023, doi. 10.1002/ajmg.a.38650
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- Article
A recurrent mutation causing Melnick‐Needles syndrome in females confers a severe, lethal phenotype in males.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 980, doi. 10.1002/ajmg.a.38651
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First‐year growth in children with Noonan syndrome: Associated with feeding problems?
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 951, doi. 10.1002/ajmg.a.38649
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- Article
Newly described recessive <italic>MYH11</italic> disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1011, doi. 10.1002/ajmg.a.38647
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- Article
Three novel <italic>GJB2</italic> (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 945, doi. 10.1002/ajmg.a.38648
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- Article
Novel <italic>RSPO1</italic> mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1006, doi. 10.1002/ajmg.a.38646
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- Article
Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 936, doi. 10.1002/ajmg.a.38645
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- Article
Age and ASD symptoms in Costello syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1027, doi. 10.1002/ajmg.a.38641
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- Article
A homozygous <italic>TTN</italic> gene variant associated with lethal congenital contracture syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1001, doi. 10.1002/ajmg.a.38639
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- Article
Low serum fatty acid levels in pregnancies with fetal gastroschisis: A prospective study.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 915, doi. 10.1002/ajmg.a.38638
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- Article
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 997, doi. 10.1002/ajmg.a.38637
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- Article
Biallelic loss‐of‐function <italic>WNT5A</italic> mutations in an infant with severe and atypical manifestations of Robinow syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1030, doi. 10.1002/ajmg.a.38636
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- Article
Autosomal dominant Robinow syndrome associated with a novel <italic>DVL3</italic> splice mutation.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 992, doi. 10.1002/ajmg.a.38635
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ICD‐10 impact on ascertainment and accuracy of oral cleft cases as recorded by the Brazilian national live birth information system.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 907, doi. 10.1002/ajmg.a.38634
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- Article
Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 896, doi. 10.1002/ajmg.a.38633
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- Article
Natural history and genotype‐phenotype correlations in 72 individuals with <italic>SATB2</italic>‐associated syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 925, doi. 10.1002/ajmg.a.38630
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- Article
The art and science of choosing efficacy endpoints for rare disease clinical trials.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 759, doi. 10.1002/ajmg.a.38629
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- Article
A novel homozygous <italic>AP4B1</italic> mutation in two brothers with AP‐4 deficiency syndrome and ocular anomalies.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 985, doi. 10.1002/ajmg.a.38628
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- Article
Three siblings with Prader–Willi syndrome caused by imprinting center microdeletions and review.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 886, doi. 10.1002/ajmg.a.38627
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- Article
Further delineation of an entity caused by <italic>CREBBP</italic> and <italic>EP300</italic> mutations but not resembling Rubinstein–Taybi syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 862, doi. 10.1002/ajmg.a.38626
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- Article
A biallelic <italic>ANTXR1</italic> variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1015, doi. 10.1002/ajmg.a.38625
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Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 1029, doi. 10.1002/ajmg.a.38624
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- Article
Two de novo novel mutations in one <italic>SHANK3</italic> allele in a patient with autism and moderate intellectual disability.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 973, doi. 10.1002/ajmg.a.38622
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- Article
International investigation of neurocognitive and behavioral phenotype in 47,XXY (Klinefelter syndrome): Predicting individual differences.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 877, doi. 10.1002/ajmg.a.38621
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- Article
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 969, doi. 10.1002/ajmg.a.38620
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- Article
Therapy development in Huntington disease: From current strategies to emerging opportunities.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 842, doi. 10.1002/ajmg.a.38494
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From clinical observations and molecular dissection to novel therapeutic strategies for primary immunodeficiency disorders.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 784, doi. 10.1002/ajmg.a.38480
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In this issue.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 757, doi. 10.1002/ajmg.a.38432
- Publication type:
- Article
Publication schedule for 2018.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 753, doi. 10.1002/ajmg.a.38431
- Publication type:
- Article
Table of Contents, Volume 176A, Number 4, April 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 749, doi. 10.1002/ajmg.a.38430
- Publication type:
- Article
Treating pediatric neuromuscular disorders: The future is now.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 804, doi. 10.1002/ajmg.a.38418
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- Article
Challenges of developing and conducting clinical trials in rare disorders.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 773, doi. 10.1002/ajmg.a.38413
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- Article