Works matching IS 00099163 AND DT 2023 AND VI 104 AND IP 2
Results: 17
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 210, doi. 10.1111/cge.14365
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Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 198, doi. 10.1111/cge.14361
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POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 186, doi. 10.1111/cge.14353
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Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 174, doi. 10.1111/cge.14352
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Support to caregivers who have received genetic information about neurodevelopmental and psychiatric vulnerability in their young children: A narrative review.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 163, doi. 10.1111/cge.14349
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Genetic risk for Huntington Disease and reproductive decision‐making: A systematic review.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 147, doi. 10.1111/cge.14345
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Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 275, doi. 10.1111/cge.14344
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RNASEH2C c.194G>A is a Chinese‐specific founder mutation in three unrelated patients with Aicardi‐Goutières syndrome 3.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 259, doi. 10.1111/cge.14343
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Revisiting TOP2B‐related phenotypes: Three new cases and literature review.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 251, doi. 10.1111/cge.14341
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Expanding the phenotype of PIGP deficiency to multiple congenital anomalies‐hypotonia‐seizures syndrome.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 245, doi. 10.1111/cge.14340
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Steroid‐resistant nephrotic syndrome caused by nuclear pore gene NUP133 variation.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 272, doi. 10.1111/cge.14339
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Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 238, doi. 10.1111/cge.14338
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Identification of bi‐allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 230, doi. 10.1111/cge.14336
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Missense variant in RBM10 associated with mild and non‐lethal form of TARP syndrome.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 269, doi. 10.1111/cge.14326
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Compound heterozygous variants in WLS gene causes Zaki syndrome.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 226, doi. 10.1111/cge.14334
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Homozygous frameshift variant in desmoglein 2 gene causes biventricular arrhythmogenic right ventricular cardiomyopathy.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 266, doi. 10.1111/cge.14321
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- Article
Issue Information.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 2, p. 145, doi. 10.1111/cge.14158
- Publication type:
- Article