Found: 11
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Prenatal phenotype of Kabuki syndrome: A case series and literature review.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 9, p. 1089, doi. 10.1002/pd.5998
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- Article
First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing.
- Published in:
- Genes, 2021, v. 12, n. 3, p. 370, doi. 10.3390/genes12030370
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- Publication type:
- Article
Intellectual Functioning of Children With Isolated PRS, PRS-Plus, and Syndromic PRS.
- Published in:
- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 1, p. 33, doi. 10.1177/10556656221115596
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- Article
Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 196, doi. 10.1002/ajmg.c.31697
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- Article
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 208, doi. 10.1002/ajmg.c.31692
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- Article
Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.803088
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- Article
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63657
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- Article
Genotype and phenotype in 18 Chinese patients with Coffin‐Siris syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2250, doi. 10.1002/ajmg.a.62187
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- Article
An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks‐Innes syndrome).
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1925, doi. 10.1002/ajmg.a.62164
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- Article
Adult Chinese twins with Kenny–Caffey syndrome type 2: A potential age‐dependent phenotype and review of literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 636, doi. 10.1002/ajmg.a.61991
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- Publication type:
- Article
CHARGE syndrome in nine patients from China.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 15, doi. 10.1002/ajmg.a.61398
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- Publication type:
- Article