Výsledky vyhledávání - "Drew Cratsenberg"

Akademický článek

P151: Long-term outcomes of adult siblings with TRIT1-related disorder

Autor: Drew Cratsenberg, Omar Abdul-Rahman

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100180- (2023)

Externí odkaz: https://doaj.org/article/67e08d54e199414c8aee395cba66c597

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Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy

Autor: Peter J. Winningham, Drew Cratsenberg, Lois J. Starr

Publikováno v: Clinical Dysmorphology. 30:159-163

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cae2b31b4842e194302acdbe04d1bc36
https://doi.org/10.1097/mcd.0000000000000367

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Third familial case of DNMT3A-related overgrowth syndrome: should we be screening for cardiac complications in these patients?

Autor: Anji T. Yetman, Travis Schreier, Lois J. Starr, Drew Cratsenberg

Publikováno v: Molecular Genetics and Metabolism. 132:S186

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::54b352b8cb0d42036b6873a7ef6d5b00
https://doi.org/10.1016/s1096-7192(21)00377-2

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A newborn’s hyperinsulinemia workup results in discovering likely cause of father’s rhabdomyolysis: expanding the phenotype of KCNJ11-related disorders

Autor: Mohamad Alhaijhusain, Lois J. Starr, Drew Cratsenberg, Elizabeth Null

Publikováno v: Molecular Genetics and Metabolism. 132:S190

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f156debf8c35f78f2b777a1f07974b6f
https://doi.org/10.1016/s1096-7192(21)00382-6

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