Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 9
Results: 33
A celebration in honor of John M. Graham, Jr, MD, ScD.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2617, doi. 10.1002/ajmg.a.62404
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Nonlethal presentations of CYP26B1‐related skeletal anomalies and multiple synostoses syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2766, doi. 10.1002/ajmg.a.62387
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Never quit on hills: John M. Graham, Jr. MD, ScD, as mentor.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2650, doi. 10.1002/ajmg.a.62388
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- Article
Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2782, doi. 10.1002/ajmg.a.62373
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Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2719, doi. 10.1002/ajmg.a.62362
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Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2829, doi. 10.1002/ajmg.a.62356
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The delineation of the Wolf‐Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2748, doi. 10.1002/ajmg.a.62341
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Postoperative helmet therapy following fronto‐orbital advancement and cranial vault remodeling in patients with unilateral coronal synostosis.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2670, doi. 10.1002/ajmg.a.62256
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Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2739, doi. 10.1002/ajmg.a.62247
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Pediatric Cushing syndrome: An early sign of an underling cancer predisposition syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2824, doi. 10.1002/ajmg.a.62255
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Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2801, doi. 10.1002/ajmg.a.62235
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Characterization of sleep habits of children with Sotos syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2815, doi. 10.1002/ajmg.a.62212
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Classifications of split hand foot malformation (SHFM) should include transverse deficiencies: Why Maisels was correct.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2809, doi. 10.1002/ajmg.a.62242
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Next‐generation sequencing and the evolution of data sharing.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2633, doi. 10.1002/ajmg.a.62239
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A lasting imprint.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2649, doi. 10.1002/ajmg.a.62214
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The Dysmorphology Unit from 1976 to 1980: Fleeting fellow, deformations, and John Graham.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2622, doi. 10.1002/ajmg.a.62211
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- Article
Fifty years of recognizable patterns of human malformation: Insights and opportunities.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2653, doi. 10.1002/ajmg.a.62240
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Thinking outside "The Box": Case‐based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2636, doi. 10.1002/ajmg.a.62202
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Direct visualization of the evolution of limb amputation in amnion rupture sequence in an extremely preterm infant born at 22 weeks.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2821, doi. 10.1002/ajmg.a.62137
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Deformations associated with arthrogryposis.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2676, doi. 10.1002/ajmg.a.62151
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Partners in care.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2630, doi. 10.1002/ajmg.a.62149
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3137 fetuses in 33 years: What we have learned from the Wisconsin stillbirth service program.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2683, doi. 10.1002/ajmg.a.62143
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A journey towards answers: Bonnie Odgers Meets Dr. John Graham.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2627, doi. 10.1002/ajmg.a.62210
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Parent‐authored memoirs: Lessons in the practice of narrative medicine.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2846, doi. 10.1002/ajmg.a.62107
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- Article
To John M. Graham Jr, who called me into a career in clinical genetics.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2646, doi. 10.1002/ajmg.a.62200
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- Article
Hedgehog acyl‐transferase‐related multiple congenital anomalies: Report of an additional family and delineation of the syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2756, doi. 10.1002/ajmg.a.62186
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Reflections on a career in dysmorphology, teratology, and clinical genetics.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2620, doi. 10.1002/ajmg.a.62171
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The spectrum of brain malformations and disruptions in twins.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2690, doi. 10.1002/ajmg.a.61972
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Expanding the phenotypic spectrum of RPL13‐related skeletal dysplasia.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2776, doi. 10.1002/ajmg.a.61965
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Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2789, doi. 10.1002/ajmg.a.61876
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Cover Image, Volume 185A, Number 9, September 2021.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. i, doi. 10.1002/ajmg.a.61696
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- Article
Publication schedule for 2021.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2615, doi. 10.1002/ajmg.a.61692
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Table of Contents, Volume 185A, Number 9, September 2021.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2611, doi. 10.1002/ajmg.a.61691
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- Article