| Monosomy 1p36 deletion syndrome |
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| The 6p subtelomere deletion syndrome |
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| 22q13.3 deletion syndrome: A recognizable malformation syndrome associated with marked speech and language delay |
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| Chromosome 5q subtelomeric deletion syndrome |
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| The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future |
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| The chromosome 9q subtelomere deletion syndrome |
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| Cryptic telomere imbalance: A 15‐year update |
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| Novel microdeletion syndromes |
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| Chromosome 2q37 deletion: Clinical and molecular aspects |
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| Clinical features in adults with congenital disorders of glycosylation type Ia (CDG‐Ia) |
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| The natural histories of bone dysplasias in adults—Vignettes, fables and just‐so stories |
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| Healthcare transition in persons with intellectual disabilities: General issues, the Maastricht model, and Prader–Willi syndrome |
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| Noonan syndrome |
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| Diagnosis and management of medical problems in adults with Williams–Beuren syndrome |
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| Analysis of 88 adult patients referred for genetics evaluation |
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| Adult dysmorphology: Perspectives on approach to diagnosis and care |
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| Photo essay—Seckel syndrome |
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| Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems? |
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| Photo essay—Hypochrondroplasia |
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| Photo essay—Geroderma osteodysplastica |
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| Photo essay—Noonan syndrome |
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| Natural history of aging in Cornelia de Lange syndrome |
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| Challenges of diagnosis in fetal alcohol syndrome and fetal alcohol spectrum disorder in the adult |
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| Tracheal occlusion: A review of obstructing fetal lungs to make them grow and mature |
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| Development of the diaphragm and genetic mouse models of diaphragmatic defects |
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| Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics |
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| Congenital diaphragmatic hernia and pulmonary hypoplasia: New insights from developmental biology and genetics |
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| Vitamin A deficiency (VAD), teratogenic, and surgical models of congenital diaphragmatic hernia (CDH) |
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| Lung development and implications for hypoplasia found in congenital diaphragmatic hernia |
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| Single gene disorders associated with congenital diaphragmatic hernia |
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| Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH |
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| Antenatal and postnatal lung and vascular anatomic and functional studies in congenital diaphragmatic hernia: Implications for clinical management |
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| Congenital diaphragmatic hernia and associated cardiovascular malformations: Type, frequency, and impact on management |
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| From new screens to discovered genes: The successful past and promising present of single gene disorders |
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| The second trimester genetic sonogram |
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| Prenatal screening and diagnosis—An introduction |
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| Prenatal diagnosis of structural cardiac defects |
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| First trimester ultrasonography in screening and detection of fetal anomalies |
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| Ethical considerations of early (first vs. second trimester) risk assessment disclosure for trisomy 21 and patient choice in screening versus diagnostic testing |
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| Prenatal diagnosis using cell‐free nucleic acids in maternal body fluids: A decade of progress |
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| Major fetal structural malformations: The role of new imaging modalities |
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| Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis |
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| Aneuploidy screening in the first trimester |
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