Found: 24
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Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 64, doi. 10.1002/ajmg.a.63385
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- Article
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 53, doi. 10.1002/ajmg.a.63392
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- Article
Early development and adaptive functioning in children with Bardet‐Biedl syndrome.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 31, doi. 10.1002/ajmg.a.63391
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- Article
Beckwith–Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 88, doi. 10.1002/ajmg.a.63381
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- Article
Pseudo‐eye‐of‐the‐tiger sign in cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 103, doi. 10.1002/ajmg.a.63419
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- Article
A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 39, doi. 10.1002/ajmg.a.63415
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- Article
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 82, doi. 10.1002/ajmg.a.63413
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- Article
Growth charts in DYRK1A syndrome.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 9, doi. 10.1002/ajmg.a.63412
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- Article
Moebius syndrome and gastroschisis—The second case of a rare association.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 111, doi. 10.1002/ajmg.a.63411
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- Article
Response to "Letter to the editor" regarding "Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease".
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 119, doi. 10.1002/ajmg.a.63410
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- Article
An atypical Aymé‐Gripp phenotype detected by exome sequencing.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 70, doi. 10.1002/ajmg.a.63406
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- Article
Woodhouse–Sakati syndrome in an Indian patient with a novel pathogenic variant.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 100, doi. 10.1002/ajmg.a.63405
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- Article
Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 117, doi. 10.1002/ajmg.a.63404
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- Article
A familial deletion of 10p12.1 associated with thrombocytopenia.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 77, doi. 10.1002/ajmg.a.63403
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- Article
Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 59, doi. 10.1002/ajmg.a.63402
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- Article
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 17, doi. 10.1002/ajmg.a.63399
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- Article
A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 94, doi. 10.1002/ajmg.a.63386
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- Article
Clinical and genetic characterization of a Chinese family with pontocerebellar hypoplasia type 7.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 46, doi. 10.1002/ajmg.a.63371
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- Article
ZFHX4 truncating variant and orofacial clefting.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 115, doi. 10.1002/ajmg.a.63353
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Characteristics of hearing impairment in patients with trisomy 18.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 107, doi. 10.1002/ajmg.a.63358
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Table of Contents, Volume 194A, Number 1, January 2024.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 1, doi. 10.1002/ajmg.a.63255
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- Article
In This Issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 8, doi. 10.1002/ajmg.a.63254
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- Article
Friends, Family, and Colleagues Remember Dr. John Opitz.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 6, doi. 10.1002/ajmg.a.63253
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- Article
In Memoriam: John M. Opitz, MD.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 5, doi. 10.1002/ajmg.a.63252
- Publication type:
- Article