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Refinado por: Nome da Publicação: Molecular Genetics & Genomic Medicine remover idioma: Inglês remover
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1
Targeted next‐generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation
Targeted next‐generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation
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Targeted next‐generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation

Han, Dongming ; Wang, Ziwei ; Chen, Xuan ; Liu, Zijia ; Yang, Zhengtao ; Chen, Yixi ; Tian, Peiyi ; Li, Jiankang ; Wang, ZhuoShi

Molecular genetics & genomic medicine, 2024-07, Vol.12 (7), p.e2482 [Periódico revisado por pares]

Hoboken: John Wiley and Sons Inc

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2
Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease
Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease
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Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease

Martinez‐Montoya, Valentina ; Sánchez‐Sánchez, Luz María ; Sandoval‐Pacheco, Roberto ; Castro, Diana Mónica Anaya ; Arellano‐Valdez, Carmen Araceli ; Ávila‐Rejón, Carmen Amor ; Aguilar‐Juárez, Pedro Alejandro ; Espino‐Pluma, Martín ; González‐Santillanes, Cruz Antonio ; Martínez‐Segovia, Rosa Isela ; Olmos‐Morfin, Dorian ; la Torre, Ofelia Padilla‐De ; Solís‐Sánchez, Ishar ; Espinosa, Mónica Vázquez‐Del Mercado ; Villarroel‐Cortés, Camilo Ernesto ; Velarde‐Félix, Jesús Salvador ; López‐Valdez, Jaime ; Olaiz‐Urbina, Julio ; Ricárdez‐Marcial, Edgar ; Vergara‐Sánchez, Imelda ; Radillo‐Díaz, Pablo ; Kazakova, Ekaterina ; De la Fuente‐Cortez, Beatriz ; del Carmen Marquez‐Quiróz, Luz ; Torres‐Octavo, Benjamín ; Diaz‐Martinez, Rubicel

Molecular genetics & genomic medicine, 2024-07, Vol.12 (7), p.e2480 [Periódico revisado por pares]

Hoboken: John Wiley and Sons Inc

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3
A novel variant c.902C>A (p. A301D) in KCNQ4 associated with non‐syndromic deafness 2A in a Chinese family
A novel variant c.902C>A (p. A301D) in KCNQ4 associated with non‐syndromic deafness 2A in a Chinese family
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A novel variant c.902C>A (p. A301D) in KCNQ4 associated with non‐syndromic deafness 2A in a Chinese family

Ren, Lingyan ; Wu, Jiangfen ; Kuang, Ying ; Chen, Kun ; Jiang, Minmin ; Zhuo, Zhaozhen ; Cao, Zuwei ; Huang, Shengwen

Molecular genetics & genomic medicine, 2024-07, Vol.12 (7), p.e2446 [Periódico revisado por pares]

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4
Issue Information
Issue Information
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Molecular genetics & genomic medicine, 2024-07, Vol.12 (7) [Periódico revisado por pares]

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5
A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases
A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases
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A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases

Seyedtaghia, Mohammad Reza ; Jafarzadeh‐Esfehani, Reza ; Hosseini, Seyedmojtaba ; Kobravi, Sepehr ; Hakkaki, Mahdis ; Nilipour, Yalda

Molecular genetics & genomic medicine, 2024-07, Vol.12 (7), p.e2489 [Periódico revisado por pares]

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6
A novel variant in the FLCN gene in a Chinese family with Birt–Hogg–Dubé syndrome
A novel variant in the FLCN gene in a Chinese family with Birt–Hogg–Dubé syndrome
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A novel variant in the FLCN gene in a Chinese family with Birt–Hogg–Dubé syndrome

Miao, He ; Zhou, Yulin ; Ge, Silun ; Gu, Yufeng ; Qu, Le ; Zhou, Wenquan ; He, Haowei

Molecular genetics & genomic medicine, 2024-07, Vol.12 (7), p.e2488 [Periódico revisado por pares]

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7
A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17
A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17
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A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17

Mukai, Takeo ; Kato, Shota ; Tanaka, Hiroyuki ; Kuroda, Yukiko ; Kitaoka, Hiroki ; Ito, Atsushi ; Shitara, Yoshihiko ; Kashima, Kohei ; Takami, Hirokazu ; Takahashi, Naoto ; Kato, Motohiro

Molecular genetics & genomic medicine, 2024-07, Vol.12 (7), p.e2452 [Periódico revisado por pares]

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8
No evidence of Fabry disease in a patient with the new p. Met70Val GLA gene variant
No evidence of Fabry disease in a patient with the new p. Met70Val GLA gene variant
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No evidence of Fabry disease in a patient with the new p. Met70Val GLA gene variant

Capelli, Irene ; Di Costanzo, Roberta ; Aiello, Valeria ; Lerario, Sarah ; De Giovanni, Paola ; Montevecchi, Marcello ; Cerretani, Davide ; Donadio, Vincenzo ; La Manna, Gaetano ; Mignani, Renzo

Molecular genetics & genomic medicine, 2024-06, Vol.12 (6) [Periódico revisado por pares]

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9
Loss‐of‐function polymorphisms in NQO1 are not associated with the development of subacute myelo‐optico‐neuropathy
Loss‐of‐function polymorphisms in NQO1 are not associated with the development of subacute myelo‐optico‐neuropathy
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Loss‐of‐function polymorphisms in NQO1 are not associated with the development of subacute myelo‐optico‐neuropathy

Matsumoto, Hideki ; Sasai, Hideo ; Kawamoto, Norio ; Katsuyama, Masato ; Minamiyama, Makoto ; Kuru, Satoshi ; Fukao, Toshiyuki ; Ohnishi, Hidenori

Molecular genetics & genomic medicine, 2024-06, Vol.12 (6), p.e2470-n/a [Periódico revisado por pares]

Bognor Regis: John Wiley & Sons, Inc

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10
Noninvasive prenatal screening in a pregnant woman with a history of stem cell transplant from a male donor: A case report and literature review
Noninvasive prenatal screening in a pregnant woman with a history of stem cell transplant from a male donor: A case report and literature review
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Noninvasive prenatal screening in a pregnant woman with a history of stem cell transplant from a male donor: A case report and literature review

Liang, Dong ; Lin, Ying ; Luo, Chunyu ; Li, Hang ; Hu, Ping ; Xu, Zhengfeng

Molecular genetics & genomic medicine, 2024-06, Vol.12 (6), p.e2479-n/a [Periódico revisado por pares]

Bognor Regis: John Wiley & Sons, Inc

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Deste Autor:

  1. Kim, C
  2. Ronjo, R
  3. Costa, E
  4. Duarte, A
  5. Dias, A

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Original
  5. Humans

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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