Works matching AU Zerres, Klaus

Results: 119

Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.

Published in:

Neurogenetics, 2007, v. 8, n. 2, p. 137, doi. 10.1007/s10048-006-0070-0

By:

Rudnik-Schöneborn, Sabine;
Botzenhart, Elke;
Eggermann, Thomas;
Senderek, Jan;
Schoser, Benedikt;
Schröder, Rolf;
Wehnert, Manfred;
Wirth, Brunhilde;
Zerres, Klaus

Publication type:

Article

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1542, doi. 10.1002/humu.22722

By:

Morin, Gilles;
Bruechle, Nadina Ortiz;
Singh, Amrathlal Rabbind;
Knopp, Cordula;
Jedraszak, Guillaume;
Elbracht, Miriam;
Brémond‐Gignac, Dominique;
Hartmann, Kathi;
Sevestre, Henri;
Deutz, Peter;
Hérent, Didier;
Nürnberg, Peter;
Roméo, Bernard;
Konrad, Kerstin;
Mathieu‐Dramard, Michèle;
Oldenburg, Johannes;
Bourges‐Petit, Elisabeth;
Shen, Yuequan;
Zerres, Klaus;
Ouadid‐Ahidouch, Halima

Publication type:

Article

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

Published in:

Human Mutation, 2014, v. 35, n. 10, p. 1121, doi. 10.1002/humu.22621

By:

Morin, Gilles;
Bruechle, Nadina Ortiz;
Singh, Amrathlal Rabbind;
Knopp, Cordula;
Jedraszak, Guillaume;
Elbracht, Miriam;
Brémond‐Gignac, Dominique;
Hartmann, Kathi;
Sevestre, Henri;
Deutz, Peter;
Hérent, Didier;
Nürnberg, Peter;
Roméo, Bernard;
Konrad, Kerstin;
Mathieu‐Dramard, Michèle;
Oldenburg, Johannes;
Bourges‐Petit, Elisabeth;
Shen, Yuequan;
Zerres, Klaus;
Ouadid‐Ahidouch, Halima

Publication type:

Article

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

Published in:

Human Mutation, 2008, v. 29, n. 1, p. 45, doi. 10.1002/humu.20614

By:

Frank, Valeska;
den Hollander, Anneke I.;
Brüchle, Nadina Ortiz;
Zonneveld, Marijke N.;
Nürnberg, Gudrun;
Becker, Christian;
Du Bois, Gabriele;
Kendziorra, Heide;
Roosing, Susanne;
Senderek, Jan;
Nürnberg, Peter;
Cremers, Frans P.M.;
Zerres, Klaus;
Bergmann, Carsten

Publication type:

Article

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Published in:

Human Mutation, 2007, v. 28, n. 6, p. 638, doi. 10.1002/humu.9496

By:

Frank, Valeska;
Ortiz Brüchle, Nadina;
Mager, Silke;
Frints, Susanna G. M.;
Bohring, Axel;
du Bois, Gabriele;
Debatin, Irmgard;
Seidel, Heide;
Senderek, Jan;
Besbas, Nesrin;
Todt, Unda;
Kubisch, Christian;
Grimm, Tiemo;
Teksen, Fulya;
Balci, Sevim;
Zerres, Klaus;
Bergmann, Carsten

Publication type:

Article

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 225, doi. 10.1002/humu.20145

By:

Bergmann, Carsten;
Küpper, Fabian;
Dornia, Christian;
Schneider, Frank;
Senderek, Jan;
Zerres, Klaus

Publication type:

Article

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 487, doi. 10.1002/humu.20019

By:

Bergmann, Carsten;
Senderek, Jan;
Schneider, Frank;
Dornia, Christian;
Küpper, Fabian;
Eggermann, Thomas;
Rudnik-Schöneborn, Sabine;
Kirfel, Jutta;
Moser, Markus;
Büttner, Reinhard;
Zerres, Klaus

Publication type:

Article

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

Published in:

Human Mutation, 2004, v. 23, n. 5, p. 453, doi. 10.1002/humu.20029

By:

Bergmann, Carsten;
Senderek, Jan;
Küpper, Fabian;
Schneider, Frank;
Dornia, Christian;
Windelen, Ellen;
Eggermann, Thomas;
Rudnik-Schöneborn, Sabine;
Kirfel, Jutta;
Furu, Laszlo;
Onuchic, Luiz F.;
Rossetti, Sandro;
Harris, Peter C.;
Somlo, Stefan;
Guay-Woodford, Lisa;
Germino, Gregory G.;
Moser, Markus;
Büttner, Reinhard;
Zerres, Klaus

Publication type:

Article

Determination of SMN1 and SMN2 copy number using TaqMan technology (Communicated by Graham Taylor).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 74, doi. 10.1002/humu.10221

By:

Dirk Anhuf;
Thomas Eggermann;
Sabine Rudnik-Schöneborn;
Klaus Zerres

Publication type:

Article

Determination of SMN1 and SMN2 copy number using TaqMan™ technologyCommunicated by Graham Taylor.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 74, doi. 10.1002/humu.10221

By:

Dirk Anhuf;
Thomas Eggermann;
Sabine Rudnik‐Schöneborn;
Klaus Zerres

Publication type:

Article

The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.

Published in:

Urological Research, 2004, v. 32, n. 2, p. 75, doi. 10.1007/s00240-004-0405-y

By:

Schmidt, Christa;
Vester, Udo;
Hesse, Albrecht;
Lahme, Sven;
Lang, Florian;
Zerres, Klaus;
Eggermann, Thomas

Publication type:

Article

Obesity is associated with a slower response to initial phenprocoumon therapy whereas CYP2C9 genotypes are not.

Published in:

European Journal of Clinical Pharmacology, 2006, v. 62, n. 9, p. 713, doi. 10.1007/s00228-006-0158-3

By:

Meyer zu Schwabedissen, Cordula;
Mevissen, Vera;
Schmitz, Fabian;
Woodruff, Seth;
Langebartels, Georg;
Rau, Thomas;
Zerres, Klaus;
Hoffmann, Rainer;
Ortlepp, Jan R.

Publication type:

Article

Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie-Tooth disease type 2E.

Published in:

Clinical Neuropathology, 2014, v. 33, n. 5, p. 335, doi. 10.5414/NP300742

By:

Elbracht, Miriam;
Senderek, Jan;
Schara, Ulrike;
Nolte, Kay;
Klopstock, Thomas;
Roos, Andreas;
Reimann, Jens;
Zerres, Klaus;
Weis, Joachim;
Rudnik-Schöneborn, Sabine

Publication type:

Article

Familial factors and hearing impairment modulate the neuromotor phenotype in Turner syndrome.

Published in:

European Journal of Pediatrics, 2003, v. 162, n. 1, p. 30, doi. 10.1007/s00431-002-1087-5

By:

Haverkamp, Fritz;
Keuker, Tanja;
Woelfle, Joachim;
Kaiser, Gundi;
Zerres, Klaus;
Rietz, Christian;
Ruenger, Michaela

Publication type:

Article

Uniparental disomy: clinical indications for testing in growth retardation.

Published in:

European Journal of Pediatrics, 2002, v. 161, n. 6, p. 305, doi. 10.1007/s00431-002-0916-x

By:

Eggermann, Thomas;
Zerres, Klaus;
Eggermann, Katja;
Moore, Gudrun;
Wollmann, Hartmut A.

Publication type:

Article

Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease.

Published in:

2001

By:

Frenzel, Sabine;
Apel, Thomas W.;
Heidemann, Peter H.;
Zerres, Klaus;
Neumann, Hartmut P. H.;
Dörr, Helmuth G.;
Frenzel, S;
Apel, T W;
Heidemann, P H;
Zerres, K;
Neumann, H P;
Dörr, H G

Publication type:

journal article

Role of interferon-γ gene polymorphisms in susceptibility to IgA nephropathy: a family-based association study.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 4, p. 488, doi. 10.1038/sj.ejhg.5201591

By:

Schena, Francesco Paolo;
Cerullo, Giuseppina;
Torres, Diletta Domenica;
Scolari, Francesco;
Foramitti, Marina;
Amoroso, Antonio;
Pirulli, Doroti;
Floege, Jürgen;
Mertens, Peter Rene;
Zerres, Klaus;
Alexopoulos, Efstathios;
Kirmizis, Dimitrios;
Zelante, Leopoldo;
Bisceglia, Luigi

Publication type:

Article

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 3, p. 309, doi. 10.1038/sj.ejhg.5201268

By:

Eggermann, Thomas;
Zerres, Klaus;
Anhuf, Dirk;
Kotzot, Dieter;
Fauth, Christine;
Rudnik-Schöneborn, Sabine

Publication type:

Article

Genomic structure of the gene for the human P1 protein (MCM3) and its exclusion as a candidate for autosomal recessive polycystic kidney disease.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 3, p. 163, doi. 10.1038/sj.ejhg.5200426

By:

Hofmann, Yvonne;
Becker, Jutta;
Wright, Felicia;
Avner, Ellis D;
Mrug, Michal;
Guay-Woodford, Lisa M;
Somlo, Stefan;
Zerres, Klaus;
Germino, Gregory G;
Onuchic, Luiz F

Publication type:

Article

The Predictive Value of Achieved Motor Milestones Assessed in 441 Patients with Infantile Spinal Muscular Atrophy Types II and III.

Published in:

European Neurology, 2001, v. 45, n. 3, p. 174, doi. 10.1159/000052118

By:

Rudnik-Schöneborn, Sabine;
Hausmanowa-Petrusewicz, Irena;
Borkowska, Janina;
Zerres, Klaus

Publication type:

Article

Ein Geburtstagsgruß für Tiemo Grimm zum 80. Geburtstag.

Published in:

Medizinische Genetik, 2024, v. 36, n. 4, p. 271, doi. 10.1515/medgen-2024-2044

By:

Zerres, Klaus

Publication type:

Article

Holger Höhn zum 80. Geburtstag und der mühsame Beginn der Humangenetik in Würzburg vor mehr als 40 Jahren.

Published in:

Medizinische Genetik, 2023, v. 35, n. 1, p. 55, doi. 10.1515/medgen-2023-2001

By:

Grimm, Tiemo;
Zerres, Klaus

Publication type:

Article

Preconception carrier screening as an alternative reproductive option prior to newborn screening for severe recessive disorders.

Published in:

Medizinische Genetik, 2022, v. 34, n. 2, p. 157, doi. 10.1515/medgen-2022-2123

By:

Rudnik-Schöneborn, Sabine;
Zerres, Klaus

Publication type:

Article

Das Oral-History-Projekt – Lehren aus der Geschichte unseres Faches.

Published in:

2021

By:

Zerres, Klaus

Publication type:

Editorial

Akademie Humangenetik - Jahresbericht 2017.

Published in:

Medizinische Genetik, 2018, v. 30, n. 1, p. 54, doi. 10.1007/s11825-018-0177-3

By:

Zerres, Klaus;
Fiedler, Brigitte

Publication type:

Article

Spinale Muskelatrophien.

Published in:

Medizinische Genetik, 2017, v. 29, n. 1, p. 21, doi. 10.1007/s11825-017-0129-3

By:

Rudnik-Schöneborn, Sabine;
Zerres, Klaus

Publication type:

Article

Präimplantationsdiagnostik.

Published in:

2016

By:

Zerres, Klaus

Publication type:

Editorial

Präimplantationsdiagnostik im Europavergleich.

Published in:

Medizinische Genetik, 2016, v. 28, n. 3, p. 320, doi. 10.1007/s11825-016-0106-2

By:

Geffroy, Sandra;
Zerres, Klaus

Publication type:

Article

Gesellschaftlicher Diskurs zur Präimplantationsdiagnostik im Spiegel von Debatten und Stellungnahmen.

Published in:

Medizinische Genetik, 2016, v. 28, n. 3, p. 342, doi. 10.1007/s11825-016-0107-1

By:

Zerres, Klaus;
Scholz, Christine

Publication type:

Article

Editorial.

Published in:

Medizinische Genetik, 2014, v. 26, n. 4, p. 371, doi. 10.1007/s11825-014-0026-y

By:

Grimm, Tiemo;
Zerres, Klaus

Publication type:

Article

Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

Published in:

Nature Genetics, 2011, v. 43, n. 11, p. 1142, doi. 10.1038/ng.945

By:

Lamandé, Shireen R;
Yuan, Yuan;
Gresshoff, Irma L;
Rowley, Lynn;
Belluoccio, Daniele;
Kaluarachchi, Kumara;
Little, Christopher B;
Botzenhart, Elke;
Zerres, Klaus;
Amor, David J;
Cole, William G;
Savarirayan, Ravi;
McIntyre, Peter;
Bateman, John F

Publication type:

Article

Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Published in:

2006

By:

Zenker, Martin;
Mayerle, Julia;
Lerch, Markus M;
Tagariello, Andreas;
Zerres, Klaus;
Durie, Peter R;
Beier, Matthias;
Hülskamp, Georg;
Guzman, Celina;
Rehder, Helga;
Beemer, Frits A;
Hamel, Ben;
Vanlieferinghen, Philippe;
Gershoni-Baruch, Ruth;
Vieira, Marta W;
Dumic, Miroslav;
Auslender, Ron;
Gil-da-Silva-Lopes, Vera L;
Steinlicht, Simone;
Rauh, Manfred

Publication type:

Correction Notice

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Published in:

Nature Genetics, 2005, v. 37, n. 12, p. 1345, doi. 10.1038/ng1681

By:

Zenker, Martin;
Mayerle, Julia;
Lerch, Markus M.;
Tagariello, Andreas;
Zerres, Klaus;
Durie, Peter R.;
Beier, Matthias;
Hülskamp, Georg;
Guzman, Celina;
Rehder, Helga;
Beemer, Frits A.;
Hamel, Ben;
Vanlieferinghen, Philippe;
Gershoni-Baruch, Ruth;
Vieira, Marta W.;
Dumic, Miroslav;
Auslender, Ron;
Gil-da-Silva-Lopes, Vera L.;
Steinlicht, Simone;
Rauh, Manfred

Publication type:

Article

Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

Published in:

Nature Genetics, 2001, v. 29, n. 1, p. 75, doi. 10.1038/ng703

By:

Grohmann, Katja;
Schuelke, Markus;
Diers, Alexander;
Hoffmann, Katrin;
Lucke, Barbara;
Adams, Coleen;
Bertini, Enrico;
Leonhardt-Horti, Hajnalka;
Muntoni, Francesco;
Ouvrier, Robert;
Pfeufer, Arne;
Rossi, Rainer;
Van Maldergem, Lionel;
Wilmshurst, Jo M.;
Wienker, Thomas F.;
Sendtner, Michael;
Rudnik-Schöneborn, Sabine;
Zerres, Klaus;
Hübner, Christoph

Publication type:

Article

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics.

Published in:

Nature Genetics, 1998, v. 20, n. 1, p. 83, doi. 10.1038/1753

By:

Scharf, Jeremiah M.;
Endrizzi, Matthew G.;
Wetter, Axel;
Huang, Sidong;
Thompson, Terri G.;
Zerres, Klaus;
Dietrich, William F.;
Wirth, Brunhilde;
Kunkel, Louis M.

Publication type:

Article

Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing.

Published in:

PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123476

By:

Kirschner, Martin M. J.;
Schemionek, Mirle;
Schubert, Claudia;
Chatain, Nicolas;
Sontag, Stephanie;
Isfort, Susanne;
Ortiz-Brüchle, Nadina;
Schmitt, Karla;
Krüger, Luisa;
Zerres, Klaus;
Zenke, Martin;
Brümmendorf, Tim H.;
Koschmieder, Steffen

Publication type:

Article

The amount of calcium-deficient hexagonal hydroxyapatite in aortic valves is influenced by gender and associated with genetic polymorphisms in patients with severe calcific aortic stenosis.

Published in:

European Heart Journal, 2004, v. 25, n. 6, p. 514, doi. 10.1016/j.ehj.2003.09.006

By:

Ortlepp, Jan R;
Schmitz, Fabian;
Mevissen, Vera;
Weiß, Stefan;
Huster, Jürgen;
Dronskowski, Richard;
Langebartels, Georg;
Autschbach, Rüdiger;
Zerres, Klaus;
Weber, Christian;
Hanrath, Peter;
Hoffmann, Rainer

Publication type:

Article

The effects of a DTNBP1 gene variant on attention networks: an fMRI study.

Published in:

Behavioral & Brain Functions, 2010, v. 6, p. 54, doi. 10.1186/1744-9081-6-54

By:

Thimm, Markus;
Krug, Axel;
Kellermann, Thilo;
Markov, Valentin;
Krach, Sören;
Jansen, Andreas;
Zerres, Klaus;
Eggermann, Thomas;
Stöcker, Tony;
Shah, N. Jon;
Nöthen, Markus M.;
Rietschel, Marcella;
Kircher, Tilo

Publication type:

Article

Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?

Published in:

Cerebellum, 2014, v. 13, n. 1, p. 79, doi. 10.1007/s12311-013-0521-8

By:

Poretti, Andrea;
Häusler, Martin;
Moers, Arpad;
Baumgartner, Bastian;
Zerres, Klaus;
Klein, Andrea;
Aiello, Chiara;
Moro, Francesca;
Zanni, Ginevra;
Santorelli, Filippo;
Huisman, Thierry;
Weis, Joachim;
Valente, Enza;
Bertini, Enrico;
Boltshauser, Eugen

Publication type:

Article

Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 9, p. 788, doi. 10.1007/s10038-006-0022-4

By:

Bergmann, Carsten;
Frank, Valeska;
Küpper, Fabian;
Schmidt, Christa;
Senderek, Jan;
Zerres, Klaus

Publication type:

Article

Inherited cases of CNOT3‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.

Published in:

Clinical Genetics, 2020, v. 98, n. 4, p. 408, doi. 10.1111/cge.13819

By:

Meyer, Robert;
Begemann, Matthias;
Demuth, Stephanie;
Kraft, Florian;
Dey, Daniela;
Schüler, Herdit;
Busse, Sabine;
Häusler, Martin;
Zerres, Klaus;
Kurth, Ingo;
Eggermann, Thomas;
Elbracht, Miriam

Publication type:

Article

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

Published in:

2016

By:

Jijun Wan;
Steffen, Janos;
Yourshaw, Michael;
Mamsa, Hafsa;
Andersen, Erik;
Rudnik-Schöneborn, Sabine;
Pope, Kate;
Howell, Katherine B.;
McLean, Catriona A.;
Kornberg, Andrew J.;
Joseph, Jörg;
Lockhart, Paul J.;
Zerres, Klaus;
Ryan, Monique M.;
Nelson, Stanley F.;
Koehler, Carla M.;
Jen, Joanna C.;
Wan, Jijun

Publication type:

journal article

Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy.

Published in:

Brain: A Journal of Neurology, 2003, v. 126, n. 3, p. 642, doi. 10.1093/brain/awg068

By:

Senderek, Jan;
Bergmann, Carsten;
Ramaekers, Vincent T.;
Nelis, Eva;
Bernert, Günther;
Makowski, Astrid;
Züchner, Stephan;
De Jonghe, Peter;
Rudnik‐Schöneborn, Sabine;
Zerres, Klaus;
Schröder, J. Michael

Publication type:

Article

Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.

Published in:

2017

By:

Erger, Florian;
Brüchle, Nadina;
Gembruch, Ulrich;
Zerres, Klaus;
Brüchle, Nadina Ortiz

Publication type:

journal article

Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies.

Published in:

Archives of Gynecology & Obstetrics, 2013, v. 288, n. 5, p. 1153, doi. 10.1007/s00404-013-2861-5

By:

Roos, Andreas;
Kaisenberg, Constantin;
Eggermann, Thomas;
Schwanitz, Gesa;
Löffler, Christine;
Weise, Anja;
Mrasek, Kristin;
Junge, Annelore;
Caliebe, Almuth;
Belitz, Britta;
Kautza, Monika;
Schüler, Herdit;
Zerres, Klaus;
Heidemann, Simone

Publication type:

Article

Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome.

Published in:

Archives of Gynecology & Obstetrics, 2012, v. 286, n. 4, p. 917, doi. 10.1007/s00404-012-2411-6

By:

Eckmann-Scholz, Christel;
Jonat, Walter;
Zerres, Klaus;
Ortiz-Brüchle, Nadine

Publication type:

Article

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1.

Published in:

Human Genetics, 2003, v. 114, n. 1, p. 11, doi. 10.1007/s00439-003-1025-2

By:

Helmken, Claudia;
Hofmann, Yvonne;
Schoenen, Frank;
Oprea, Gabriela;
Raschke, Heidrun;
Rudnik-Schöneborn, Sabine;
Zerres, Klaus;
Wirth, Brunhilde

Publication type:

Article

Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA).

Published in:

Human Molecular Genetics, 1997, v. 6, n. 5, p. 821, doi. 10.1093/hmg/6.5.821

By:

Hahnen, Eric;
Schönling, Jutta;
Rudnik-Schöneborn, Sabine;
Raschke, Heidrun;
Zerres, Klaus;
Wirth, Brunhilde

Publication type:

Article

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 10, p. 1927

By:

Hahnen, Eric;
Forkert, Randolf;
Marke, Christine;
Rudnik-Schöneborn, Sabine;
Schönling, Jutta;
Zerres, Klaus;
Creavin, T.;
Wirth, Brunhilde

Publication type:

Article

Pontocerebellar hypoplasia.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 2, p. 173, doi. 10.1002/ajmg.c.31403

By:

Rudnik‐Schöneborn, Sabine;
Barth, Peter G.;
Zerres, Klaus

Publication type:

Article