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Search Results - Koch-Hogrebe, Margarete
Search Results - Koch-Hogrebe, Margarete
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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
by
Appelhof, Bart
,
Wagner, Matias
,
Hoefele, Julia
,
Heinze, Anja
,
Roser, Timo
,
Koch-Hogrebe, Margarete
,
Roosendaal, Stefan D
,
Dehghani, Mohammadreza
,
Mehrjardi, Mohammad Yahya Vahidi
,
Torti, Erin
,
Houlden, Henry
,
Maroofian, Reza
,
Rajabi, Farrah
,
Sticht, Heinrich
,
Baas, Frank
,
Wieczorek, Dagmar
,
Jamra, Rami Abou
Published in
European journal of human genetics : EJHG
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Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
by
Averdunk, Luisa
,
Sticht, Heinrich
,
Surowy, Harald
,
Lüdecke, Hermann‑Josef
,
Koch‑Hogrebe, Margarete
,
Alsaif, Hessa S.
,
Kahrizi, Kimia
,
Alzaidan, Hamad
,
Alawam, Bashayer S.
,
Tohary, Mohamed
,
Kraus, Cornelia
,
Endele, Sabine
,
Wadman, Erin
,
Kaplan, Julie D.
,
Efthymiou, Stephanie
,
Najmabadi, Hossein
,
Reis, André
,
Alkuraya, Fowzan S.
,
Wieczorek, Dagmar
Published in
Journal of molecular medicine (Berlin, Germany)
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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
by
Duncan, Anna R.
,
Polovitskaya, Maya M.
,
Gaitán-Peñas, Héctor
,
Bertelli, Sara
,
VanNoy, Grace E.
,
Grant, Patricia E.
,
O’Donnell-Luria, Anne
,
Valivullah, Zaheer
,
Lovgren, Alysia Kern
,
England, Elaina M.
,
Agolini, Emanuele
,
Madden, Jill A.
,
Schmitz-Abe, Klaus
,
Kritzer, Amy
,
Hawley, Pamela
,
Novelli, Antonio
,
Alfieri, Paolo
,
Colafati, Giovanna Stefania
,
Wieczorek, Dagmar
,
Platzer, Konrad
,
Luppe, Johannes
,
Koch-Hogrebe, Margarete
,
Abou Jamra, Rami
,
Neira-Fresneda, Juanita
,
Lehman, Anna
,
Boerkoel, Cornelius F.
,
Seath, Kimberly
,
Clarke, Lorne
,
van Ierland, Yvette
,
Argilli, Emanuela
,
Sherr, Elliott H.
,
Maiorana, Andrea
,
Diel, Thilo
,
Hempel, Maja
,
Bierhals, Tatjana
,
Estévez, Raúl
,
Jentsch, Thomas J.
,
Pusch, Michael
,
Agrawal, Pankaj B.
Published in
American journal of human genetics
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The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
by
Averdunk, Luisa
,
Sticht, Heinrich
,
Surowy, Harald
,
Lüdecke, Hermann-Josef
,
Koch-Hogrebe, Margarete
,
Alsaif, Hessa S.
,
Kahrizi, Kimia
,
Alzaidan, Hamad
,
Alawam, Bashayer S.
,
Tohary, Mohamed
,
Kraus, Cornelia
,
Endele, Sabine
,
Wadman, Erin
,
Kaplan, Julie D.
,
Efthymiou, Stephanie
,
Najmabadi, Hossein
,
Reis, André
,
Alkuraya, Fowzan S.
,
Wieczorek, Dagmar
Published in
Journal of molecular medicine (Berlin, Germany)
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Assessment of Sleep-Related Problems in Children with Cerebral Palsy Using the SNAKE Sleep Questionnaire
by
Dreier, Larissa Alice
,
Kapanci, Tugba
,
Lonnemann, Katharina
,
Koch-Hogrebe, Margarete
,
Wiethoff-Ubrig, Lucia
,
Rauchenzauner, Markus
,
Blankenburg, Markus
,
Zernikow, Boris
,
Wager, Julia
,
Rostasy, Kevin
Published in
Children (Basel)
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PHIP -associated Chung-Jansen syndrome: Report of 23 new individuals
by
Kampmeier, Antje
,
Leitão, Elsa
,
Parenti, Ilaria
,
Beygo, Jasmin
,
Depienne, Christel
,
Bramswig, Nuria C
,
Hsieh, Tzung-Chien
,
Afenjar, Alexandra
,
Beck-Wödl, Stefanie
,
Grasshoff, Ute
,
Haack, Tobias B
,
Bijlsma, Emilia K
,
Ruivenkamp, Claudia
,
Lausberg, Eva
,
Elbracht, Miriam
,
Haanpää, Maria K
,
Koillinen, Hannele
,
Heinrich, Uwe
,
Rost, Imma
,
Jamra, Rami Abou
,
Popp, Denny
,
Koch-Hogrebe, Margarete
,
Rostasy, Kevin
,
López-González, Vanesa
,
Sanchez-Soler, María José
,
Macedo, Catarina
,
Schmetz, Ariane
,
Steinborn, Carmen
,
Weidensee, Sabine
,
Lesmann, Hellen
,
Marbach, Felix
,
Caro, Pilar
,
Schaaf, Christian P
,
Krawitz, Peter
,
Wieczorek, Dagmar
,
Kaiser, Frank J
,
Kuechler, Alma
Published in
Frontiers in cell and developmental biology
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Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders
by
Ruault, Valentin
,
Burger, Pauline
,
Gradels‐Hauguel, Johanna
,
Ruiz, Nathalie
,
Jamra, Rami Abou
,
Afenjar, Alexandra
,
Alembik, Yves
,
Alessandri, Jean‐Luc
,
Arpin, Stéphanie
,
Barcia, Giulia
,
Bendová, Šárka
,
Bruel, Ange‐Line
,
Charles, Perrine
,
Chatron, Nicolas
,
Chopra, Maya
,
Conrad, Solène
,
Daire, Valérie Cormier
,
Cospain, Auriane
,
Coubes, Christine
,
Coursimault, Juliette
,
Delahaye‐Duriez, Andrée
,
Doco, Martine
,
Dufour, William
,
Durand, Benjamin
,
Engel, Camille
,
Faivre, Laurence
,
Ferroul, Fanny
,
Fradin, Mélanie
,
Frenkiel, Hélène
,
Fusco, Carlo
,
Garavelli, Livia
,
Garde, Aurore
,
Gerard, Bénédicte
,
Germanaud, David
,
Goujon, Louise
,
Gouronc, Aurélie
,
Ginglinger, Emmanuelle
,
Goldenberg, Alice
,
Hancarova, Miroslava
,
Havlovicová, Markéta
,
Heron, Delphine
,
Isidor, Bertrand
,
Marçais, Nolwenn Jean
,
Keren, Boris
,
Koch‐Hogrebe, Margarete
,
Kuentz, Paul
,
Lamure, Victoria
,
Lebre, Anne‐Sophie
,
Lecoquierre, François
,
Lehman, Natacha
,
Lesca, Gaetan
,
Lyonnet, Stanislas
,
Martin, Delphine
,
Mignot, Cyril
,
Neuhann, Teresa M.
,
Nicolas, Gaël
,
Nizon, Mathilde
,
Petit, Florence
,
Philippe, Christophe
,
Piton, Amélie
,
Pollazzon, Marzia
,
Prchalová, Darina
,
Putoux, Audrey
,
Rio, Marlène
,
Rondeau, Sophie
,
Rossi, Massimiliano
,
Sabbagh, Quentin
,
Saugier‐Veber, Pascale
,
Schmetz, Ariane
,
Steffann, Julie
,
Thauvin‐Robinet, Christel
,
Toutain, Annick
,
Them, Frederic Tran Mau
,
Trimarchi, Gabriele
,
Vincent, Marie
,
Vlčková, Markéta
,
Wieczorek, Dagmar
,
Willems, Marjolaine
,
Yauy, Kevin
,
Zelinová, Michaela
,
Ziegler, Alban
,
Chaumette, Boris
,
Sadikovic, Bekim
,
Mandel, Jean‐Louis
,
Geneviève, David
Published in
Molecular genetics & genomic medicine
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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
by
Johannesen, Katrine M
,
Liu, Yuanyuan
,
Koko, Mahmoud
,
Gjerulfsen, Cathrine E
,
Sonnenberg, Lukas
,
Schubert, Julian
,
Fenger, Christina D
,
Eltokhi, Ahmed
,
Rannap, Maert
,
Koch, Nils A
,
Lauxmann, Stephan
,
Krüger, Johanna
,
Kegele, Josua
,
Canafoglia, Laura
,
Franceschetti, Silvana
,
Mayer, Thomas
,
Rebstock, Johannes
,
Zacher, Pia
,
Ruf, Susanne
,
Alber, Michael
,
Sterbova, Katalin
,
Lassuthová, Petra
,
Vlckova, Marketa
,
Lemke, Johannes R
,
Platzer, Konrad
,
Krey, Ilona
,
Heine, Constanze
,
Wieczorek, Dagmar
,
Kroell-Seger, Judith
,
Lund, Caroline
,
Klein, Karl Martin
,
Au, P Y Billie
,
Rho, Jong M
,
Ho, Alice W
,
Masnada, Silvia
,
Veggiotti, Pierangelo
,
Giordano, Lucio
,
Accorsi, Patrizia
,
Hoei-Hansen, Christina E
,
Striano, Pasquale
,
Zara, Federico
,
Verhelst, Helene
,
Verhoeven, Judith S
,
Braakman, Hilde M H
,
van der Zwaag, Bert
,
Harder, Aster V E
,
Brilstra, Eva
,
Pendziwiat, Manuela
,
Lebon, Sebastian
,
Vaccarezza, Maria
,
Le, Ngoc Minh
,
Christensen, Jakob
,
Grønborg, Sabine
,
Scherer, Stephen W
,
Howe, Jennifer
,
Fazeli, Walid
,
Howell, Katherine B
,
Leventer, Richard
,
Stutterd, Chloe
,
Walsh, Sonja
,
Gerard, Marion
,
Gerard, Bénédicte
,
Matricardi, Sara
,
Bonardi, Claudia M
,
Sartori, Stefano
,
Berger, Andrea
,
Hoffman-Zacharska, Dorota
,
Mastrangelo, Massimo
,
Darra, Francesca
,
Vøllo, Arve
,
Motazacker, M Mahdi
,
Lakeman, Phillis
,
Nizon, Mathilde
,
Betzler, Cornelia
,
Altuzarra, Cecilia
,
Caume, Roseline
,
Roubertie, Agathe
,
Gélisse, Philippe
,
Marini, Carla
,
Guerrini, Renzo
,
Bilan, Frederic
,
Tibussek, Daniel
,
Koch-Hogrebe, Margarete
,
Perry, M Scott
,
Ichikawa, Shoji
,
Dadali, Elena
,
Sharkov, Artem
,
Mishina, Irina
,
Abramov, Mikhail
,
Kanivets, Ilya
,
Korostelev, Sergey
,
Kutsev, Sergey
,
Wain, Karen E
,
Eisenhauer, Nancy
,
Wagner, Monisa
,
Savatt, Juliann M
,
Müller-Schlüter, Karen
,
Bassan, Haim
,
Borovikov, Artem
,
Nassogne, Marie Cecile
Published in
Brain (London, England : 1878)
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Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome
by
Bainbridge, Matthew N
,
Mazumder, Aloran
,
Ogasawara, Daisuke
,
Abou Jamra, Rami
,
Bernard, Geneviève
,
Bertini, Enrico
,
Burglen, Lydie
,
Cope, Heidi
,
Crawford, Ali
,
Derksen, Alexa
,
Dure, Leon
,
Gantz, Emily
,
Koch-Hogrebe, Margarete
,
Hurst, Anna C E
,
Mahida, Sonal
,
Marshall, Paige
,
Micalizzi, Alessia
,
Novelli, Antonio
,
Peng, Hongfan
,
Rodriguez, Diana
,
Robbins, Shira L
,
Rutledge, S Lane
,
Scalise, Roberta
,
Schließke, Sophia
,
Shashi, Vandana
,
Srivastava, Siddharth
,
Thiffault, Isabella
,
Topol, Sarah
,
Qebibo, Leila
,
Wieczorek, Dagmar
,
Cravatt, Benjamin
,
Haricharan, Svasti
,
Torkamani, Ali
,
Friedman, Jennifer
Published in
Brain (London, England : 1878)
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A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome
by
White, Susan M.
,
Bhoj, Elizabeth
,
Nellåker, Christoffer
,
Lachmeijer, Augusta M.A.
,
Marshall, Aren E.
,
Boycott, Kym M.
,
Li, Dong
,
Smith, Wendy
,
Hartley, Taila
,
McBride, Arran
,
Ernst, Michelle E.
,
May, Alison S.
,
Wieczorek, Dagmar
,
Abou Jamra, Rami
,
Koch-Hogrebe, Margarete
,
Õunap, Katrin
,
Pajusalu, Sander
,
van Gassen, K.L.I.
,
Sadedin, Simon
,
Ellingwood, Sara
,
Tan, Tiong Yang
,
Christodoulou, John
,
Barea, Jaime
,
Lockhart, Paul J.
,
Nezarati, Marjan M.
,
Kernohan, Kristin D.
Published in
American journal of human genetics
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