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Telomere-to-telomere assembly of a complete human X chromosome
Telomere-to-telomere assembly of a complete human X chromosome
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Telomere-to-telomere assembly of a complete human X chromosome

Miga, Karen H ; Koren, Sergey ; Rhie, Arang ; Vollger, Mitchell R ; Gershman, Ariel ; Bzikadze, Andrey ; Brooks, Shelise ; Howe, Edmund ; Porubsky, David ; Logsdon, Glennis A ; Schneider, Valerie A ; Potapova, Tamara ; Wood, Jonathan ; Chow, William ; Armstrong, Joel ; Fredrickson, Jeanne ; Pak, Evgenia ; Tigyi, Kristof ; Kremitzki, Milinn ; Markovic, Christopher ; Maduro, Valerie ; Dutra, Amalia ; Bouffard, Gerard G ; Chang, Alexander M ; Hansen, Nancy F ; Wilfert, Amy B ; Thibaud-Nissen, Françoise ; Schmitt, Anthony D ; Belton, Jon-Matthew ; Selvaraj, Siddarth ; Dennis, Megan Y ; Soto, Daniela C ; Sahasrabudhe, Ruta ; Kaya, Gulhan ; Quick, Josh ; Loman, Nicholas J ; Holmes, Nadine ; Loose, Matthew ; Surti, Urvashi ; Risques, Rosa Ana ; Graves Lindsay, Tina A ; Fulton, Robert ; Hall, Ira ; Paten, Benedict ; Howe, Kerstin ; Timp, Winston ; Young, Alice ; Mullikin, James C ; Pevzner, Pavel A ; Gerton, Jennifer L ; Sullivan, Beth A ; Eichler, Evan E ; Phillippy, Adam M

Nature (London), 2020-09, Vol.585 (7823), p.79-84 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Ethnic disparities in complete and partial molar pregnancy incidence: a retrospective analysis of arab and jewish women in single medical center
Ethnic disparities in complete and partial molar pregnancy incidence: a retrospective analysis of arab and jewish women in single medical center
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Ethnic disparities in complete and partial molar pregnancy incidence: a retrospective analysis of arab and jewish women in single medical center

Aiob, Ala ; Gumin, Dina ; Zilberfarb, Inna ; Naskovica, Karina ; Sgayer, Inshirah ; Mikhail, Susana Mustafa ; Sharon, Avishalom ; Lowenstein, Lior

BMC public health, 2024-05, Vol.24 (1), p.1440-1440 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads
Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads
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Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads

Vollger, Mitchell R. ; Logsdon, Glennis A. ; Audano, Peter A. ; Sulovari, Arvis ; Porubsky, David ; Peluso, Paul ; Wenger, Aaron M. ; Concepcion, Gregory T. ; Kronenberg, Zev N. ; Munson, Katherine M. ; Baker, Carl ; Sanders, Ashley D. ; Spierings, Diana C.J. ; Lansdorp, Peter M. ; Surti, Urvashi ; Hunkapiller, Michael W. ; Eichler, Evan E.

Annals of human genetics, 2020-03, Vol.84 (2), p.125-140 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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4
Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles
Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles
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Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

Qian, JianHua ; Nguyen, Ngoc Minh Phuong ; Rezaei, Maryam ; Huang, Bo ; Tao, YongLing ; Zhang, XiaoFei ; Cheng, Qi ; Yang, HanJin ; Asangla, Ao ; Majewski, Jacek ; Slim, Rima

European journal of human genetics : EJHG, 2018-07, Vol.26 (7), p.1007-1013 [Periódico revisado por pares]

England: Nature Publishing Group

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5
A suspicious mole under the knee
A suspicious mole under the knee
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A suspicious mole under the knee

de Vanssay de Blavous, Pauline M ; Anketell, Priscilla ; Fernandez, Carolina P

Clinical and experimental dermatology, 2024-05, Vol.49 (6), p.655-657 [Periódico revisado por pares]

England

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6
Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting
Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting
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Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting

Sanchez-Delgado, Marta ; Martin-Trujillo, Alejandro ; Tayama, Chiharu ; Vidal, Enrique ; Esteller, Manel ; Iglesias-Platas, Isabel ; Deo, Nandita ; Barney, Olivia ; Maclean, Ken ; Hata, Kenichiro ; Nakabayashi, Kazuhiko ; Fisher, Rosemary ; Monk, David Eggermann, Thomas

PLoS genetics, 2015-11, Vol.11 (11), p.e1005644-e1005644 [Periódico revisado por pares]

United States: Public Library of Science

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7
Abnormal processing of IL‐1β in NLRP7‐mutated monocytes in hydatidiform mole patients
Abnormal processing of IL‐1β in NLRP7‐mutated monocytes in hydatidiform mole patients
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Abnormal processing of IL‐1β in NLRP7‐mutated monocytes in hydatidiform mole patients

Zhang, P. ; Zhu, X. ; Yu, X. ; Huang, B. ; Jiang, T. ; Zhang, X. ; Yang, H. ; Qian, J.

Clinical and experimental immunology, 2020-10, Vol.202 (1), p.72-79 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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8
Avoid making a mountain out of an invasive hydatidiform mole: do a pregnancy test
Avoid making a mountain out of an invasive hydatidiform mole: do a pregnancy test
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Avoid making a mountain out of an invasive hydatidiform mole: do a pregnancy test

Hemida, Reda ; van Doorn, Helena C

The Lancet (British edition), 2019-07, Vol.394 (10194), p.e2-e2 [Periódico revisado por pares]

England: Elsevier Ltd

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9
Live births in women with recurrent hydatidiform mole and two NLRP7 mutations
Live births in women with recurrent hydatidiform mole and two NLRP7 mutations
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Live births in women with recurrent hydatidiform mole and two NLRP7 mutations

Akoury, Elie ; Gupta, Neerja ; Bagga, Rashmi ; Brown, Stephen ; Déry, Christine ; Kabra, Madhulika ; Srinivasan, Radhika ; Slim, Rima

Reproductive biomedicine online, 2015-07, Vol.31 (1), p.120-124 [Periódico revisado por pares]

Netherlands: Elsevier Ltd

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10
Detection of Parental Contribution to Molar Genome Leads to Diagnosis of Recurrent Hydatidiform Mole in a Family with NLRP7 Variants
Detection of Parental Contribution to Molar Genome Leads to Diagnosis of Recurrent Hydatidiform Mole in a Family with NLRP7 Variants
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Detection of Parental Contribution to Molar Genome Leads to Diagnosis of Recurrent Hydatidiform Mole in a Family with NLRP7 Variants

Wang, Rong-Yue ; Li, Yu-Juan ; Zhen, Li ; Jiang, Fan ; Gu, Cong-Min ; Li, Dong-Zhi

Fetal and pediatric pathology, 2022-06, Vol.41 (3), p.511-515 [Periódico revisado por pares]

England: Taylor & Francis

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