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Unexplained Female Infertility Associated with Genetic Disease Variants.
N Engl J Med. 2023 Mar 16;388(11):1055-1056. doi: 10.1056/NEJMc2211539.
N Engl J Med. 2023.
PMID: 36920765
Free PMC article.
No abstract available.
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.
Brakta S, Hawkins ZA, Sahajpal N, Seman N, Kira D, Chorich LP, Kim HG, Xu H, Phillips JA 3rd, Kolhe R, Layman LC.
Brakta S, et al. Among authors: hawkins za.
Hum Genet. 2023 Apr;142(4):483-494. doi: 10.1007/s00439-023-02522-8. Epub 2023 Feb 17.
Hum Genet. 2023.
PMID: 36797380
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Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome.
Poch A, Dougherty MP, Roman RA, Chorich L, Hawkins Z, Kim SH, Kim HG, Layman LC.
Poch A, et al.
Mol Cell Endocrinol. 2024 Aug 1;589:112224. doi: 10.1016/j.mce.2024.112224. Epub 2024 Apr 7.
Mol Cell Endocrinol. 2024.
PMID: 38593951
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Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.
Brakta S, Du Q, Chorich LP, Hawkins ZA, Sullivan ME, Ko EK, Kim HG, Knight J, Taylor HS, Friez M, Phillips JA 3rd, Layman LC.
Brakta S, et al. Among authors: hawkins za.
Mol Cell Endocrinol. 2024 Aug 1;589:112237. doi: 10.1016/j.mce.2024.112237. Epub 2024 Apr 8.
Mol Cell Endocrinol. 2024.
PMID: 38599276
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