| The genetics of isolated congenital heart disease |
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| Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations |
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| The genetic workup for structural congenital heart disease |
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| Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes |
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| Cover Image, Volume 181, Number 4, December 2019 |
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| Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry |
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| Table of Contents, Volume 181, Number 4, December 2019 |
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| Publication schedule for 2019 |
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| Approach to overgrowth syndromes in the genome era |
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| X‐linked duplication copy number variation in a familial overgrowth condition |
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| Rare <i>SUZ12</i> variants commonly cause an overgrowth phenotype |
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| The NuRD complex and macrocephaly associated neurodevelopmental disorders |
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| Variants in nuclear factor I genes influence growth and development |
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| The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients |
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| PRC2‐complex related dysfunction in overgrowth syndromes: A review of <i>EZH2</i>, <i>EED</i>, and <i>SUZ12</i> and their syndromic phenotypes |
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| Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet‐derived growth factor receptor‐beta |
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| <i>EML1‐</i>associated brain overgrowth syndrome with ribbon‐like heterotopia |
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| Null variants and deletions in <i>BRWD3</i> cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients |
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| A dyadic genotype–phenotype approach to diagnostic criteria for Proteus syndrome |
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| <i>SETD2</i> related overgrowth syndrome: Presentation of four new patients and review of the literature |
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| Epigenetic signatures in overgrowth syndromes: Translational opportunities |
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| <i>PTEN</i> Hamartoma tumor syndrome in childhood: A review of the clinical literature |
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| Table of Contents, Volume 181, Number 3, September 2019 |
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| Publication schedule for 2019 |
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| Cover Image, Volume 181, Number 3, September 2019 |
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| Thrombosis risk factors in PIK3CA‐related overgrowth spectrum and Proteus syndrome |
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| Collaborating to advance interdisciplinary care for individuals with arthrogryposis |
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| The phenotype of Sotos syndrome in adulthood: A review of 44 individuals |
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| Treatment and outcomes of arthrogryposis in the lower extremity |
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| Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management |
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| Arthrogryposis multiplex congenita definition: Update using an international consensus‐based approach |
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| Megalencephaly syndromes associated with mutations of core components of the PI3K‐AKT–MTOR pathway: <i>PIK3CA</i>, <i>PIK3R2</i>, <i>AKT3</i>, and <i>MTOR</i> |
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| Congenital hyperinsulinism disorders: Genetic and clinical characteristics |
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| Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care |
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| Rehabilitation across the lifespan for individuals with arthrogryposis |
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| A standardized autopsy protocol for arthrogryposis (multiple congenital contractures) |
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| The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature |
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| Gene ontology analysis of arthrogryposis (multiple congenital contractures) |
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| Perspectives on gait and motion analysis in the management of youth with arthrogryposis multiplex congenita |
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| Research platform for children with arthrogryposis multiplex congenita: Findings from the pilot registry |
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| Muscle and joint function in children living with arthrogryposis multiplex congenita: A scoping review |
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| Fetal cervical hyperextension in arthrogryposis |
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| Pain among children and adults living with arthrogryposis multiplex congenita: A scoping review |
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| Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management |
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| International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita |
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| Classification of arthrogryposis |
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| Treatment and outcomes of arthrogryposis in the upper extremity |
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| Quality of life, satisfaction with life, and functional mobility of young adults with arthrogryposis after leaving pediatric care |
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| The relationship between joint surgery and quality of life in adults with arthrogryposis: An international study |
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| Play with objects in children with arthrogryposis: Effects of intervention with the Playskin Lift™ exoskeletal garment |
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| Disease coding systems for arthrogryposis multiplex congenita |
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| Cover Image, Volume 181, Number 2, June 2019 |
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| Publication schedule for 2019 |
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| Table of Contents, Volume 181, Number 2, June 2019 |
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| Medical genetics and genomic medicine in Japan |
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| Summary of the 3rd international symposium on arthrogryposis |
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| Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper |
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| Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy |
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| The different facets of “culture” in genetic counseling: A situated analysis of genetic counseling in Hong Kong |
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| Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia |
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| Training in clinical genetics and genetic counseling in Asia |
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| Development of clinical genetics in Asia |
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| Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong |
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✓ |
✓ |
mostly Chinese patients |
| Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong |
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| Genetic studies on systemic lupus erythematosus in East Asia point to population differences in disease susceptibility |
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✓ |
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European populations / Europeans |
| Three additional de novo <i>CTCF</i> mutations in Chinese patients help to define an emerging neurodevelopmental disorder |
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| Precision medicine in Thailand |
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| Table of Contents, Volume 181, Number 1, March 2019 |
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| Publication schedule for 2019 |
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| The rise of the genetic counseling profession in China |
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| Cover Image, Volume 181, Number 1, March 2019 |
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| Sex hormone replacement therapy for individuals with Turner syndrome |
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| Growth and growth hormone in Turner syndrome: Looking back, looking ahead |
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| Epigenetics and genomics in Turner syndrome |
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| The impact of somatic mosaicism on bicuspid aortic valve and aortic dissection in Turner Syndrome |
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| Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions |
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| The state of Turner syndrome science: Are we on the threshold of discovery? |
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| A strategic research alliance: Turner syndrome and sex differences |
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| How do genes that escape from X‐chromosome inactivation contribute to Turner syndrome? |
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| The mouse as a model of fundamental concepts related to Turner syndrome |
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| The genetic basis of Turner syndrome aortopathy |
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| Cardiometabolic health in Turner syndrome |
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| The Turner syndrome research registry: Creating equipoise between investigators and participants |
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| Research priorities of people living with Turner syndrome |
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| How can we make pregnancy safe for women with Turner syndrome? |
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| Clinical developmental, neuropsychological, and social–emotional features of Turner syndrome |
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| The deep biology of cognition: Moving toward a comprehensive neurodevelopmental model of Turner syndrome |
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| A hypothesis: Could telomere length and/or epigenetic alterations contribute to infertility in females with Turner syndrome? |
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| Turner syndrome: New insights from prenatal genomics and transcriptomics |
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| Conference summary: What we have learned and where we are headed |
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| “Donating our bodies to science”: A discussion about autopsy and organ donation in Turner syndrome |
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| Clinical update on sensorineural hearing loss in Turner syndrome and the X‐chromosome |
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| A review of aromatic <scp>l</scp>‐amino acid decarboxylase (AADC) deficiency in Taiwan |
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