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Understanding the genetic sex-determining mechanism in Hyla eximia treefrog inferred from H-Y antigen
Understanding the genetic sex-determining mechanism in Hyla eximia treefrog inferred from H-Y antigen
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Understanding the genetic sex-determining mechanism in Hyla eximia treefrog inferred from H-Y antigen

Ruiz, Aidet ; Cárdenas, Guadalupe ; Velasco, Desiderio ; Ramos, Luis de Oliveira, Mozaniel Santana

PloS one, 2024-05, Vol.19 (5), p.e0304554 [Periódico revisado por pares]

United States: Public Library of Science

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2
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment
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Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment

Adadey, Samuel M ; Schrauwen, Isabelle ; Aboagye, Elvis Twumasi ; Bharadwaj, Thashi ; Esoh, Kevin K ; Basit, Sulman ; Acharya, Anushree ; Nouel-Saied, Liz M ; Liaqat, Khurram ; Wonkam-Tingang, Edmond ; Mowla, Shaheen ; Awandare, Gordon A ; Ahmad, Wasim ; Leal, Suzanne M ; Wonkam, Ambroise

Journal of human genetics, 2021-12, Vol.66 (12), p.1169-1175 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Recurrent seizure‐related GRIN1 variant: Molecular mechanism and targeted therapy
Recurrent seizure‐related GRIN1 variant: Molecular mechanism and targeted therapy
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Recurrent seizure‐related GRIN1 variant: Molecular mechanism and targeted therapy

Xu, Yuchen ; Song, Rui ; Chen, Wenjuan ; Strong, Katie ; Shrey, Daniel ; Gedela, Satyanarayana ; Traynelis, Stephen F. ; Zhang, Guojun ; Yuan, Hongjie

Annals of clinical and translational neurology, 2021-07, Vol.8 (7), p.1480-1494 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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4
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
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Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

Mann, Nina ; Mzoughi, Slim ; Schneider, Ronen ; Kühl, Susanne J ; Schanze, Denny ; Klämbt, Verena ; Lovric, Svjetlana ; Mao, Youying ; Shi, Shasha ; Tan, Weizhen ; Kühl, Michael ; Onuchic-Whitford, Ana C ; Treimer, Ernestine ; Kitzler, Thomas M ; Kause, Franziska ; Schumann, Sven ; Nakayama, Makiko ; Buerger, Florian ; Shril, Shirlee ; van der Ven, Amelie T ; Majmundar, Amar J ; Holton, Kristina Marie ; Kolb, Amy ; Braun, Daniela A ; Rao, Jia ; Jobst-Schwan, Tilman ; Mildenberger, Eva ; Lennert, Thomas ; Kuechler, Alma ; Wieczorek, Dagmar ; Gross, Oliver ; Ermisch-Omran, Beate ; Werberger, Anja ; Skalej, Martin ; Janecke, Andreas R ; Soliman, Neveen A ; Mane, Shrikant M ; Lifton, Richard P ; Kadlec, Jan ; Guccione, Ernesto ; Schmeisser, Michael J ; Zenker, Martin ; Hildebrandt, Friedhelm

Journal of the American Society of Nephrology, 2021-03, Vol.32 (3), p.580-596 [Periódico revisado por pares]

United States: American Society of Nephrology

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5
Genome‐wide analysis of Toll‐like receptors in zebrafish and the effect of rearing temperature on the receptors in response to stimulated pathogen infection
Genome‐wide analysis of Toll‐like receptors in zebrafish and the effect of rearing temperature on the receptors in response to stimulated pathogen infection
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Genome‐wide analysis of Toll‐like receptors in zebrafish and the effect of rearing temperature on the receptors in response to stimulated pathogen infection

Chen, Hong ; Liang, Yue ; Han, Yawen ; Liu, Tengfei ; Chen, Shulin

Journal of fish diseases, 2021-03, Vol.44 (3), p.337-349 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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6
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
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Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

Macken, William L ; Godwin, Annie ; Wheway, Gabrielle ; Stals, Karen ; Nazlamova, Liliya ; Ellard, Sian ; Alfares, Ahmed ; Aloraini, Taghrid ; AlSubaie, Lamia ; Alfadhel, Majid ; Alajaji, Sulaiman ; Wai, Htoo A ; Self, Jay ; Douglas, Andrew G L ; Kao, Alexander P ; Guille, Matthew ; Baralle, Diana

Genome medicine, 2021-02, Vol.13 (1), p.34-34, Article 34 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
A unique primary structure of RDL (resistant to dieldrin) confers resistance to GABA‐gated chloride channel blockers in the two‐spotted spider mite Tetranychus urticae Koch
A unique primary structure of RDL (resistant to dieldrin) confers resistance to GABA‐gated chloride channel blockers in the two‐spotted spider mite Tetranychus urticae Koch
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A unique primary structure of RDL (resistant to dieldrin) confers resistance to GABA‐gated chloride channel blockers in the two‐spotted spider mite Tetranychus urticae Koch

Kobayashi, Takeru ; Hiragaki, Susumu ; Suzuki, Takeshi ; Ochiai, Noriaki ; Canlas, Liza J. ; Tufail, Muhammad ; Hayashi, Naotaka ; Mohamed, Ahmed A.M. ; Dekeyser, Mark A. ; Matsuda, Kazuhiko ; Takeda, Makio

Journal of neurochemistry, 2020-12, Vol.155 (5), p.508-521 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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8
Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report
Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report
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Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report

Bader, Ingrid ; McTiernan, Nina ; Darbakk, Christine ; Boltshauser, Eugen ; Ree, Rasmus ; Ebner, Sabine ; Mayr, Johannes A ; Arnesen, Thomas

BMC medical genetics, 2020-07, Vol.21 (1), p.153-153, Article 153 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Three Host Plant Volatiles, Hexanal, Lauric Acid, and Tetradecane, are Detected by an Antenna-Biased Expressed Odorant Receptor 27 in the Dark Black Chafer Holotrichia parallela
Three Host Plant Volatiles, Hexanal, Lauric Acid, and Tetradecane, are Detected by an Antenna-Biased Expressed Odorant Receptor 27 in the Dark Black Chafer Holotrichia parallela
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Three Host Plant Volatiles, Hexanal, Lauric Acid, and Tetradecane, are Detected by an Antenna-Biased Expressed Odorant Receptor 27 in the Dark Black Chafer Holotrichia parallela

Wang, Xiao ; Wang, Shang ; Yi, Jiankun ; Li, Yunshuo ; Liu, Jianan ; Wang, Jun ; Xi, Jinghui

Journal of agricultural and food chemistry, 2020-07, Vol.68 (28), p.7316-7323 [Periódico revisado por pares]

United States: American Chemical Society

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10
Molecular characterization of gonadotropin-inhibitory hormone (GnIH) gene and effect of intramuscular injection of GnIH peptide on the reproductive axis in Catla catla
Molecular characterization of gonadotropin-inhibitory hormone (GnIH) gene and effect of intramuscular injection of GnIH peptide on the reproductive axis in Catla catla
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Molecular characterization of gonadotropin-inhibitory hormone (GnIH) gene and effect of intramuscular injection of GnIH peptide on the reproductive axis in Catla catla

Kumar, Pravesh ; Wisdom, K. S. ; Bhat, Irfan Ahmad ; Pathakota, Gireesh-Babu ; Nayak, Sunil Kumar ; Reang, Dhalongsaih ; Nagpure, N. S. ; Sharma, Rupam

Animal biotechnology, 2020-07, Vol.31 (4), p.335-349 [Periódico revisado por pares]

England: Taylor & Francis

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