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1
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation
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DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

Schneider, Ronen ; Deutsch, Konstantin ; Hoeprich, Gregory J. ; Marquez, Jonathan ; Hermle, Tobias ; Braun, Daniela A. ; Seltzsam, Steve ; Kitzler, Thomas M. ; Mao, Youying ; Buerger, Florian ; Majmundar, Amar J. ; Onuchic-Whitford, Ana C. ; Kolvenbach, Caroline M. ; Schierbaum, Luca ; Schneider, Sophia ; Halawi, Abdul A. ; Nakayama, Makiko ; Mann, Nina ; Connaughton, Dervla M. ; Klämbt, Verena ; Wagner, Matias ; Riedhammer, Korbinian M. ; Renders, Lutz ; Katsura, Yoshichika ; Thumkeo, Dean ; Soliman, Neveen A. ; Mane, Shrikant ; Lifton, Richard P. ; Shril, Shirlee ; Khokha, Mustafa K. ; Hoefele, Julia ; Goode, Bruce L. ; Hildebrandt, Friedhelm

American journal of human genetics, 2020-12, Vol.107 (6), p.1113-1128 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies
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Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies

Riedhammer, Korbinian M. ; Braunisch, Matthias C. ; Günthner, Roman ; Wagner, Matias ; Hemmer, Clara ; Strom, Tim M. ; Schmaderer, Christoph ; Renders, Lutz ; Tasic, Velibor ; Gucev, Zoran ; Nushi-Stavileci, Valbona ; Putnik, Jovana ; Stajić, Nataša ; Weidenbusch, Marc ; Uetz, Barbara ; Montoya, Carmen ; Strotmann, Peter ; Ponsel, Sabine ; Lange-Sperandio, Baerbel ; Hoefele, Julia

American journal of kidney diseases, 2020-10, Vol.76 (4), p.460-470 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Digest, stain and bleach: Three steps to achieving rapid microplastic fluorescence analysis in wastewater samples
Digest, stain and bleach: Three steps to achieving rapid microplastic fluorescence analysis in wastewater samples
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Digest, stain and bleach: Three steps to achieving rapid microplastic fluorescence analysis in wastewater samples

Al-Azzawi, Mohammed S.M. ; Kunaschk, Marco ; Mraz, Kristina ; Freier, Korbinian P. ; Knoop, Oliver ; Drewes, Jörg E.

The Science of the total environment, 2023-03, Vol.863, p.160947, Article 160947 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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4
Microplastic sampling from wastewater treatment plant effluents: Best-practices and synergies between thermoanalytical and spectroscopic analysis
Microplastic sampling from wastewater treatment plant effluents: Best-practices and synergies between thermoanalytical and spectroscopic analysis
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Microplastic sampling from wastewater treatment plant effluents: Best-practices and synergies between thermoanalytical and spectroscopic analysis

Al-Azzawi, Mohammed S.M. ; Funck, Matin ; Kunaschk, Marco ; der Esch, Elisabeth Von ; Jacob, Oliver ; Freier, Korbinian P. ; Schmidt, Torsten C. ; Elsner, Martin ; Ivleva, Natalia P. ; Tuerk, Jochen ; Knoop, Oliver ; Drewes, Jörg E.

Water research (Oxford), 2022-07, Vol.219, p.118549-118549, Article 118549 [Periódico revisado por pares]

England: Elsevier Ltd

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5
Enabling formulations of aprepitant: in vitro and in vivo comparison of nanocrystalline, amorphous and deep eutectic solvent based formulations
Enabling formulations of aprepitant: in vitro and in vivo comparison of nanocrystalline, amorphous and deep eutectic solvent based formulations
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Enabling formulations of aprepitant: in vitro and in vivo comparison of nanocrystalline, amorphous and deep eutectic solvent based formulations

Palmelund, Henrik ; Eriksen, Jonas B. ; Bauer-Brandl, Annette ; Rantanen, Jukka ; Löbmann, Korbinian

International journal of pharmaceutics: X, 2021-12, Vol.3, p.100083-100083, Article 100083 [Periódico revisado por pares]

Elsevier B.V

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6
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
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De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Weng, Patricia L. ; Majmundar, Amar J. ; Khan, Kamal ; Lim, Tze Y. ; Shril, Shirlee ; Jin, Gina ; Musgrove, John ; Wang, Minxian ; Ahram, Dina F. ; Aggarwal, Vimla S. ; Bier, Louise E. ; Heinzen, Erin L. ; Onuchic-Whitford, Ana C. ; Mann, Nina ; Buerger, Florian ; Schneider, Ronen ; Deutsch, Konstantin ; Kitzler, Thomas M. ; Klämbt, Verena ; Kolb, Amy ; Mao, Youying ; Moufawad El Achkar, Christelle ; Mitrotti, Adele ; Martino, Jeremiah ; Beck, Bodo B. ; Altmüller, Janine ; Benz, Marcus R. ; Yano, Shoji ; Mikati, Mohamad A. ; Gunduz, Talha ; Cope, Heidi ; Shashi, Vandana ; Trachtman, Howard ; Bodria, Monica ; Caridi, Gianluca ; Pisani, Isabella ; Fiaccadori, Enrico ; AbuMaziad, Asmaa S. ; Martinez-Agosto, Julian A. ; Yadin, Ora ; Zuckerman, Jonathan ; Kim, Arang ; John-Kroegel, Ulrike ; Tyndall, Amanda V. ; Parboosingh, Jillian S. ; Innes, A. Micheil ; Bierzynska, Agnieszka ; Koziell, Ania B. ; Muorah, Mordi ; Saleem, Moin A. ; Hoefele, Julia ; Riedhammer, Korbinian M. ; Gharavi, Ali G. ; Jobanputra, Vaidehi ; Pierce-Hoffman, Emma ; Seaby, Eleanor G. ; O’Donnell-Luria, Anne ; Rehm, Heidi L. ; Mane, Shrikant ; D’Agati, Vivette D. ; Pollak, Martin R. ; Ghiggeri, Gian Marco ; Lifton, Richard P. ; Goldstein, David B. ; Davis, Erica E. ; Hildebrandt, Friedhelm ; Sanna-Cherchi, Simone

American journal of human genetics, 2021-02, Vol.108 (2), p.357-367 [Periódico revisado por pares]

United States: Elsevier Inc

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7
The pit latrine paradox in low-income settings: A sanitation technology of choice or a pollution hotspot?
The pit latrine paradox in low-income settings: A sanitation technology of choice or a pollution hotspot?
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The pit latrine paradox in low-income settings: A sanitation technology of choice or a pollution hotspot?

Gwenzi, Willis ; Marumure, Jerikias ; Makuvara, Zakio ; Simbanegavi, Tinoziva T. ; Njomou-Ngounou, Emma Laureane ; Nya, Esther Laurentine ; Kaetzl, Korbinian ; Noubactep, Chicgoua ; Rzymski, Piotr

The Science of the total environment, 2023-06, Vol.879, p.163179-163179, Article 163179 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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8
Detecting Vocal Fatigue with Neural Embeddings
Detecting Vocal Fatigue with Neural Embeddings
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Detecting Vocal Fatigue with Neural Embeddings

Bayerl, Sebastian P. ; Wagner, Dominik ; Baumann, Ilja ; Bocklet, Tobias ; Riedhammer, Korbinian

Journal of voice, 2023-02 [Periódico revisado por pares]

United States: Elsevier Inc

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9
A new flood type classification method for use in climate change impact studies
A new flood type classification method for use in climate change impact studies
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A new flood type classification method for use in climate change impact studies

Turkington, Thea ; Breinl, Korbinian ; Ettema, Janneke ; Alkema, Dinand ; Jetten, Victor

Weather and climate extremes, 2016-12, Vol.14 (C), p.1-16 [Periódico revisado por pares]

Elsevier B.V

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10
A Double-Barrel Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS) System to Quantify 96 Interactomes per Day
A Double-Barrel Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS) System to Quantify 96 Interactomes per Day
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A Double-Barrel Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS) System to Quantify 96 Interactomes per Day

Hosp, Fabian ; Scheltema, Richard A. ; Eberl, H. Christian ; Kulak, Nils A. ; Keilhauer, Eva C. ; Mayr, Korbinian ; Mann, Matthias

Molecular & cellular proteomics, 2015-07, Vol.14 (7), p.2030-2041 [Periódico revisado por pares]

United States: Elsevier Inc

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