The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
Por um escritor misterioso
Last updated 01 agosto 2024
![The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/58ecbc6a-f363-45ed-8777-c265de76ad64/ajmga62533-fig-0001-m.jpg)
![The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/4c068d8f-3300-4901-80bc-b72ac45c4d4a/ajmga62852-fig-0001-m.jpg)
TTC5 syndrome: Clinical and molecular spectrum of a severe and
![The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/ae7f65ad-575f-4371-9f74-3380863d3726/ajmg.b.v171.6.cover.jpg?trick=1700897359045)
Whole exome sequencing in congenital pain insensitivity identifies
![The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library](https://journals.sagepub.com/cms/10.1177/1744806918781140/asset/images/large/10.1177_1744806918781140-fig3.jpeg)
Novel NTRK1 mutations in Chinese patients with congenital
![The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library](https://journals.sagepub.com/cms/10.1177/1744806918781140/asset/images/large/10.1177_1744806918781140-fig5.jpeg)
Novel NTRK1 mutations in Chinese patients with congenital
![The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library](https://i1.rgstatic.net/ii/profile.image/272359550615561-1441946985183_Q64/Tina-Kienitz.jpg)
The novel and recurrent variants in exon 31 of CREBBP in Japanese
![The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library](https://i1.rgstatic.net/ii/profile.image/272438680354851-1441965851725_Q64/Siddharth-Banka.jpg)
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
![The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library](https://i1.rgstatic.net/ii/profile.image/272187135361069-1441905878797_Q64/Flavio-Faletra.jpg)
The novel and recurrent variants in exon 31 of CREBBP in Japanese
![The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/8423726f-50f2-40c7-a42e-1332420bda69/ajmga61131-fig-0001-m.jpg)
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
![The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/2966468f-cc09-4a34-b669-b6c32bcd865b/mgg32219-fig-0001-m.jpg)
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome
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