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Renal and Skeletal Anomalies in a Cohort of Indivi...
作者
Michaela Stippel / Korbinian M. Riedhammer / Bärbel Lange-Sperandio / Michaela Geßner / Matthias C. Braunisch / Roman Günthner / Martin Bald / Miriam Schmidts / Peter Strotmann / Velibor Tasic / Christoph Schmaderer / Lutz Renders / Uwe Heemann / Julia Höfele
出版2021
ISBN
OCLC:1262878204
Parental Whole-exome Sequencing Enables Sialidosis...
作者
Reza Maroofian / Isabel Schüle / Maryam Najafi / Zeineb Bakey / Abolfazl Rad / Dinu Antony / Haleh Habibi / Miriam Schmidts
出版2018
ISBN
OCLC:1408412129
Esri ArcGIS Desktop Associate
作者
Miriam Schmidts
出版Esri Press, 2013
ISBN
1589483510 / 9781589483514
主題
Computers
CiliaCarta: an Integrated and Validated Compendium...
作者
Teunis J. P. van Dam / Julie Kennedy / Robin van der Lee / Erik de Vrieze / Kirsten A. Wunderlich / Suzanne Rix / Gerard W. Dougherty / Nils J. Lambacher / Chunmei Li / Victor L. Jensen / Michel R. Leroux / Rim Hjeij / Nicola Horn / Yves Stephan Texier / Yasmin Wissinger / Jeroen van Reeuwijk / Gabrielle Wheway / Barbara Knapp / Jan Frederik Scheel / Brunella Franco / Dorus A. Mans / Erwin van Wijk / François Képès / Gisela G. Slaats / Grischa Tödt / Hannie Kremer / Heymut Omran / Katarzyna Szymanska / Konstantinos Koutroumpas / Marius Ueffing / Thanh-Minh T. Nguyen / Stef J. F. Letteboer / Machteld M. Oud / Sylvia E. C. van Beersum / Miriam Schmidts / Philip L. Beales / Qianhao Lu / Rachel H. Giles / Radek Szklarczyk / Robert B. Russell / Toby J. Gibson / Colin A. Johnson / Oliver E. Blacque / Uwe Wolfrum / Karsten Boldt / Ronald Roepman / Victor Hernandez-Hernandez / Martijn A. Huynen
出版2019
ISBN
OCLC:1159395874
Ciliary Dyneins and Dynein Related Ciliopathies
作者
Dinu Antony / Han G Brunner / Miriam Schmidts
出版2021
ISBN
OCLC:1267479299
Genetic Studies of Paired Metabolomes Reveal Enzym...
作者
Pascal Schlosser / Nora Scherer / Franziska Grundner-Culemann / Sara Monteiro Martins / Stefan Peter Gustav Haug / Inga Steinbrenner / Burulça Uluvar / Matthias Wuttke / Yurong Cheng / Fruzsina Kotsis / Michael Köttgen / Miriam Schmidts / Ulla Teresa Schultheiß / Peggy Sekula / Yong Li / Anna Köttgen / [Study group] GCKD Investigators
出版2023
ISBN
OCLC:1389377625
Homozygous Loss-of-function Mutations in MNS1 Caus...
作者
Asaf Ta-Shma / Rim Hjeij / Dinu Antony / Miriam Schmidts / Heymut Omran
出版2018
ISBN
OCLC:1236107605
Biallelic Mutations in Neurofascin Cause Neurodeve...
作者
Stephanie Efthymiou / Miriam Schmidts / Simon Edvardson / Maria Nolano / Jerome Devaux / Henry Houlden
出版2019
ISBN
OCLC:1191840356
A 57 KB Genomic Deletion Causing CTNS Loss of Func...
作者
Maryam Najafi / Dor Mohammad Kordi-Tamandani / Anoush Azarfar / Zeineb Bakey / Farkhondeh Behjati / Dinu Antony / Isabel Schüle / Simin Sadeghi-Bojd / Ehsan Ghayoor Karimiani / Miriam Schmidts
出版2019
ISBN
OCLC:1158183942
A Homozygous Deletion of Exon 5 of KYNU Resulting ...
作者
Isabel Schüle / Urs Berger / Uta Matysiak / Gunda Ruzaike / Brigitte Stiller / Martin Pohl / Ute Spiekerkötter / Ekkehart Lausch / Sarah Grünert / Miriam Schmidts
出版2021
ISBN
OCLC:1262879174
Recessive DNAH9 Loss-of-function Mutations Cause L...
作者
Niki Tomas Loges / Dinu Antony / Zeineb Bakey / Miriam Schmidts
出版2018
ISBN
OCLC:1235802538
Rare Genetic Variants Affecting Urine Metabolite L...
作者
Yurong Cheng / Pascal Schlosser / Johannes Hertel / Peggy Sekula / Peter J. Oefner / Ute Spiekerkötter / Johanna Mielke / Daniel Freitag / Miriam Schmidts / Florian Kronenberg / Kai-Uwe Eckardt / Ines Thiele / Yong Li / Anna Köttgen / [Study Group] German Chronic Kidney Disease
出版2021
ISBN
OCLC:1245359257
A Recurrent Homozygous Missense DPM3 Variant Leads...
作者
Sara Nagy / Tracy Lau / Shahryar Alavi / Ehsan Ghayoor Karimiani / Jalal Vallian / Bobby G. Ng / Samaneh Noroozi Asl / Javad Akhondian / Amir Bahreini / Omid Yaghini / Prech Uapinyoying / Carsten G. Boennemann / Hudson H. Freeze / Vajira H. W. Dissanayake / Nirmala D. Sirisena / Miriam Schmidts / Henry Houlden / Andres Moreno-De-Luca / Reza Maroofian
出版2022
ISBN
OCLC:1354746380
Identification of a TPP1 Q278X Mutation in an Iran...
作者
Tayebeh Baranzehi / Dor Mohammad Kordi-Tamandani / Maryam Najafi / Ali Khajeh / Miriam Schmidts
出版2022
ISBN
OCLC:1354747845
Isolated Hypomethylation of IGF2 Associated with S...
作者
Sarah Grünert / Uta Matysiak / Franka Hodde / Gunda Ruzaike / Ekkehart Lausch / Anke Schumann / Natascha van der Werf-Grohmann / Ute Spiekerkötter / Miriam Schmidts
出版2021
ISBN
OCLC:1256574901
Compound Heterozygous IFT140 Variants in Two Polis...
作者
Joanna Walczak-Sztulpa / Renata Posmyk / Ewelina M. Bukowska-Olech / Anna Wasilewska / Aleksander Jamsheer / Machteld M. Oud / Miriam Schmidts / Heleen H. Arts / Anna Latos-Bielenska
出版2020
ISBN
OCLC:1156912328
Riboflavin 1 Transporter Deficiency
作者
Sarah Grünert / Athanasia Ziagaki / André Heinen / Anke Schumann / Sara Tucci / Ute Spiekerkötter / Miriam Schmidts
出版2023
ISBN
OCLC:1393160866
IFT74 Variants Cause Skeletal Ciliopathy and Motil...
作者
Zeineb Bakey / Oscar A. Cabrera / Dinu Antony / Hannah M. Mitchison / Miriam Schmidts / Gregory J. Pazour
出版2023
ISBN
OCLC:1396214124
MAB21L1 Loss of Function Causes a Syndromic Neurod...
作者
Abolfazl Rad / Umut Altunoglu / Rebecca Miller / Reza Maroofian / Kiely N. James / Ahmet Okay Çağlayan / Maryam Najafi / Valentina Stanley / Rose-Mary Boustany / Gözde Yeşil / Afsaneh Sahebzamani / Gülhan Ercan-Sencicek / Kolsoum Saeidi / Kaman Wu / Peter Bauer / Zeineb Bakey / Joseph G. Gleeson / Natalie Hauser / Murat Gunel / Hulya Kayserili / Miriam Schmidts
出版2019
ISBN
OCLC:1197163919
Biallelic Loss of Function Variants in PPP1R21 Cau...
作者
Atteeq U. Rehman / Maryam Najafi / Marios Kambouris / Lihadh Al-Gazali / Periklis Makrythanasis / Abolfazl Rad / Reza Maroofian / Anna Rajab / Zornitza Stark / Jill V. Hunter / Zeineb Bakey / Mari J. Tokita / Weimin He / Francesco Vetrini / Andrea Petersen / Federico A. Santoni / Hanan Hamamy / Kaman Wu / Fatma Al Jasmi / Martin Helmstädter / Sebastian Johannes Arnold / Fan Xia / Christopher Richmond / Pengfei Liu / Ehsan Ghayoor Karimiani / GholamReza Karami Madani / Sebastian Lunke / Hatem El-Shanti / Christine M. Eng / Stylianos E. Antonarakis / Jozef Hertecant / Magdalena Walkiewicz / Yaping Yang / Miriam Schmidts
出版2019
ISBN
OCLC:1129901620
Flow Stimulates Drug Transport in a Human Kidney P...
作者
Jelle Vriend / Janny G. P. Peters / Tom T. G. Nieskens / Renata Škovroňová / Nina Blaimschein / Miriam Schmidts / Ronald Roepman / Tom J. J. Schirris / Frans G. M. Russel / Rosalinde Masereeuw / Martijn J. Wilmer
出版2020
ISBN
OCLC:1156846305
Bi-allelic GAD1 Variants Cause a Neonatal Onset Sy...
作者
Nicolas Chatron / Felicitas Becker / Heba Morsy / Miriam Schmidts / Patrick May / Gaetan Lesca / Sarah Weckhuysen / Homa Tajsharghi
出版2020
ISBN
OCLC:1196344121
Role of the Polarity Protein Scribble for Podocyte...
作者
Björn Hartleben / Eugen Widmeier / Nicola Wanner / Miriam Schmidts / Gerd Walz / Tobias Huber
出版2012
ISBN
OCLC:985990795
Citrin Deficiency Mimicking Mitochondrial Depletio...
作者
Sarah Grünert / Anke Schumann / Peter Freisinger / Stefanie Rosenbaum-Fabian / Miriam Schmidts / Amelie Johanna Müller / Stefanie Beck-Wödl / Tobias Haack / Hendryk Schneider / Hans Fuchs / Ulrike Teufel-Schäfer / Gwendolyn Gramer / Luciana Hannibal / Ute Spiekerkötter
出版2020
ISBN
OCLC:1235774276
Physiological and Optical Properties of Chaparral ...
出版2002
ISBN
OCLC:939428614
主題
Dissertations, Academic
Hypomorphic Mutations of TRIP11 Cause Dontochondro...
作者
Anika Wehrle / Tomasz M. Witkos / Sheila Unger / Judith Schneider / John A. Follit / Johannes Hermann / Tim Welting / Virginia Fano / Marja Hietala / Nithiwat Vatanavicharn / Katharina Schoner / Jürgen W. Spranger / Miriam Schmidts / Bernhard Zabel / Gregory J. Pazour / Agnès Bloch-Zupan / Gen Nishimura / Andrea Superti-Furga / Martin Lowe / Ekkehart Lausch
出版2019
ISBN
OCLC:1189623738
Neph-Proteine interagieren mit dem Multiadapterpro...
作者
Miriam Schmidts
出版2004
ISBN
OCLC:314969484