Results
|
|
21.
|
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. [electronic resource] by
- Howard, Malcolm F
- Murakami, Yoshiko
- Pagnamenta, Alistair T
- Daumer-Haas, Cornelia
- Fischer, Björn
- Hecht, Jochen
- Keays, David A
- Knight, Samantha J L
- Kölsch, Uwe
- Krüger, Ulrike
- Leiz, Steffen
- Maeda, Yusuke
- Mitchell, Daphne
- Mundlos, Stefan
- Phillips, John A
- Robinson, Peter N
- Kini, Usha
- Taylor, Jenny C
- Horn, Denise
- Kinoshita, Taroh
- Krawitz, Peter M
Producer: 20140331
In:
American journal of human genetics vol. 94
Availability: No items available.
|
|
|
22.
|
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. [electronic resource] by
- Ehmke, Nadja
- Caliebe, Almuth
- Koenig, Rainer
- Kant, Sarina G
- Stark, Zornitza
- Cormier-Daire, Valérie
- Wieczorek, Dagmar
- Gillessen-Kaesbach, Gabriele
- Hoff, Kirstin
- Kawalia, Amit
- Thiele, Holger
- Altmüller, Janine
- Fischer-Zirnsak, Björn
- Knaus, Alexej
- Zhu, Na
- Heinrich, Verena
- Huber, Celine
- Harabula, Izabela
- Spielmann, Malte
- Horn, Denise
- Kornak, Uwe
- Hecht, Jochen
- Krawitz, Peter M
- Nürnberg, Peter
- Siebert, Reiner
- Manzke, Hermann
- Mundlos, Stefan
Producer: 20150227
In:
American journal of human genetics vol. 95
Availability: No items available.
|
|
|
23.
|
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. [electronic resource] by
- Witzel, Maximilian
- Petersheim, Daniel
- Fan, Yanxin
- Bahrami, Ehsan
- Racek, Tomas
- Rohlfs, Meino
- Puchałka, Jacek
- Mertes, Christian
- Gagneur, Julien
- Ziegenhain, Christoph
- Enard, Wolfgang
- Stray-Pedersen, Asbjørg
- Arkwright, Peter D
- Abboud, Miguel R
- Pazhakh, Vahid
- Lieschke, Graham J
- Krawitz, Peter M
- Dahlhoff, Maik
- Schneider, Marlon R
- Wolf, Eckhard
- Horny, Hans-Peter
- Schmidt, Heinrich
- Schäffer, Alejandro A
- Klein, Christoph
Producer: 20170918
In:
Nature genetics vol. 49
Availability: No items available.
|
|
|
24.
|
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. [electronic resource] by
- Kotlarz, Daniel
- Ziętara, Natalia
- Uzel, Gulbu
- Weidemann, Thomas
- Braun, Christian J
- Diestelhorst, Jana
- Krawitz, Peter M
- Robinson, Peter N
- Hecht, Jochen
- Puchałka, Jacek
- Gertz, E Michael
- Schäffer, Alejandro A
- Lawrence, Monica G
- Kardava, Lela
- Pfeifer, Dietmar
- Baumann, Ulrich
- Pfister, Eva-Doreen
- Hanson, Eric P
- Schambach, Axel
- Jacobs, Roland
- Kreipe, Hans
- Moir, Susan
- Milner, Joshua D
- Schwille, Petra
- Mundlos, Stefan
- Klein, Christoph
Producer: 20130513
In:
The Journal of experimental medicine vol. 210
Availability: No items available.
|
|
|
25.
|
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. [electronic resource] by
- Bayat, Allan
- Knaus, Alexej
- Juul, Annika Wollenberg
- Dukic, Dejan
- Gardella, Elena
- Charzewska, Agnieszka
- Clement, Emma
- Hjalgrim, Helle
- Hoffman-Zacharska, Dorota
- Horn, Denise
- Horton, Rachel
- Hurst, Jane A
- Josifova, Dragana
- Larsen, Line H G
- Lascelles, Karine
- Obersztyn, Ewa
- Pagnamenta, Alistair
- Pal, Deb K
- Pendziwiat, Manuela
- Ryten, Mina
- Taylor, Jenny
- Vogt, Julie
- Weber, Yvonne
- Krawitz, Peter M
- Helbig, Ingo
- Kini, Usha
- Møller, Rikke S
Producer: 20200317
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
Availability: No items available.
|
|
|
26.
|
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. [electronic resource] by
- Krawitz, Peter M
- Schweiger, Michal R
- Rödelsperger, Christian
- Marcelis, Carlo
- Kölsch, Uwe
- Meisel, Christian
- Stephani, Friederike
- Kinoshita, Taroh
- Murakami, Yoshiko
- Bauer, Sebastian
- Isau, Melanie
- Fischer, Axel
- Dahl, Andreas
- Kerick, Martin
- Hecht, Jochen
- Köhler, Sebastian
- Jäger, Marten
- Grünhagen, Johannes
- de Condor, Birgit Jonske
- Doelken, Sandra
- Brunner, Han G
- Meinecke, Peter
- Passarge, Eberhard
- Thompson, Miles D
- Cole, David E
- Horn, Denise
- Roscioli, Tony
- Mundlos, Stefan
- Robinson, Peter N
Producer: 20101028
In:
Nature genetics vol. 42
Availability: No items available.
|
|
|
27.
|
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. [electronic resource] by
- Ehmke, Nadja
- Graul-Neumann, Luitgard
- Smorag, Lukasz
- Koenig, Rainer
- Segebrecht, Lara
- Magoulas, Pilar
- Scaglia, Fernando
- Kilic, Esra
- Hennig, Anna F
- Adolphs, Nicolai
- Saha, Namrata
- Fauler, Beatrix
- Kalscheuer, Vera M
- Hennig, Friederike
- Altmüller, Janine
- Netzer, Christian
- Thiele, Holger
- Nürnberg, Peter
- Yigit, Gökhan
- Jäger, Marten
- Hecht, Jochen
- Krüger, Ulrike
- Mielke, Thorsten
- Krawitz, Peter M
- Horn, Denise
- Schuelke, Markus
- Mundlos, Stefan
- Bacino, Carlos A
- Bonnen, Penelope E
- Wollnik, Bernd
- Fischer-Zirnsak, Björn
- Kornak, Uwe
Producer: 20171113
In:
American journal of human genetics vol. 101
Availability: No items available.
|
|
|
28.
|
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. [electronic resource] by
- Knaus, Alexej
- Pantel, Jean Tori
- Pendziwiat, Manuela
- Hajjir, Nurulhuda
- Zhao, Max
- Hsieh, Tzung-Chien
- Schubach, Max
- Gurovich, Yaron
- Fleischer, Nicole
- Jäger, Marten
- Köhler, Sebastian
- Muhle, Hiltrud
- Korff, Christian
- Møller, Rikke S
- Bayat, Allan
- Calvas, Patrick
- Chassaing, Nicolas
- Warren, Hannah
- Skinner, Steven
- Louie, Raymond
- Evers, Christina
- Bohn, Marc
- Christen, Hans-Jürgen
- van den Born, Myrthe
- Obersztyn, Ewa
- Charzewska, Agnieszka
- Endziniene, Milda
- Kortüm, Fanny
- Brown, Natasha
- Robinson, Peter N
- Schelhaas, Helenius J
- Weber, Yvonne
- Helbig, Ingo
- Mundlos, Stefan
- Horn, Denise
- Krawitz, Peter M
Producer: 20181102
In:
Genome medicine vol. 10
Availability: No items available.
|
|
|
29.
|
PDE3A mutations cause autosomal dominant hypertension with brachydactyly. [electronic resource] by
- Maass, Philipp G
- Aydin, Atakan
- Luft, Friedrich C
- Schächterle, Carolin
- Weise, Anja
- Stricker, Sigmar
- Lindschau, Carsten
- Vaegler, Martin
- Qadri, Fatimunnisa
- Toka, Hakan R
- Schulz, Herbert
- Krawitz, Peter M
- Parkhomchuk, Dmitri
- Hecht, Jochen
- Hollfinger, Irene
- Wefeld-Neuenfeld, Yvette
- Bartels-Klein, Eireen
- Mühl, Astrid
- Kann, Martin
- Schuster, Herbert
- Chitayat, David
- Bialer, Martin G
- Wienker, Thomas F
- Ott, Jürg
- Rittscher, Katharina
- Liehr, Thomas
- Jordan, Jens
- Plessis, Ghislaine
- Tank, Jens
- Mai, Knut
- Naraghi, Ramin
- Hodge, Russell
- Hopp, Maxwell
- Hattenbach, Lars O
- Busjahn, Andreas
- Rauch, Anita
- Vandeput, Fabrice
- Gong, Maolian
- Rüschendorf, Franz
- Hübner, Norbert
- Haller, Hermann
- Mundlos, Stefan
- Bilginturan, Nihat
- Movsesian, Matthew A
- Klussmann, Enno
- Toka, Okan
- Bähring, Sylvia
Producer: 20150807
In:
Nature genetics vol. 47
Availability: No items available.
|
|
|
30.
|
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. [electronic resource] by
- Murakami, Yoshiko
- Nguyen, Thi Tuyet Mai
- Baratang, Nissan
- Raju, Praveen K
- Knaus, Alexej
- Ellard, Sian
- Jones, Gabriela
- Lace, Baiba
- Rousseau, Justine
- Ajeawung, Norbert Fonya
- Kamei, Atsushi
- Minase, Gaku
- Akasaka, Manami
- Araya, Nami
- Koshimizu, Eriko
- van den Ende, Jenneke
- Erger, Florian
- Altmüller, Janine
- Krumina, Zita
- Strautmanis, Jurgis
- Inashkina, Inna
- Stavusis, Janis
- El-Gharbawy, Areeg
- Sebastian, Jessica
- Puri, Ratna Dua
- Kulshrestha, Samarth
- Verma, Ishwar C
- Maier, Esther M
- Haack, Tobias B
- Israni, Anil
- Baptista, Julia
- Gunning, Adam
- Rosenfeld, Jill A
- Liu, Pengfei
- Joosten, Marieke
- Rocha, María Eugenia
- Hashem, Mais O
- Aldhalaan, Hesham M
- Alkuraya, Fowzan S
- Miyatake, Satoko
- Matsumoto, Naomichi
- Krawitz, Peter M
- Rossignol, Elsa
- Kinoshita, Taroh
- Campeau, Philippe M
Producer: 20200316
In:
American journal of human genetics vol. 105
Availability: No items available.
|
|
|
31.
|
PEDIA: prioritization of exome data by image analysis. [electronic resource] by
- Hsieh, Tzung-Chien
- Mensah, Martin A
- Pantel, Jean T
- Aguilar, Dione
- Bar, Omri
- Bayat, Allan
- Becerra-Solano, Luis
- Bentzen, Heidi B
- Biskup, Saskia
- Borisov, Oleg
- Braaten, Oivind
- Ciaccio, Claudia
- Coutelier, Marie
- Cremer, Kirsten
- Danyel, Magdalena
- Daschkey, Svenja
- Eden, Hilda David
- Devriendt, Koenraad
- Wilson, Sandra
- Douzgou, Sofia
- Đukić, Dejan
- Ehmke, Nadja
- Fauth, Christine
- Fischer-Zirnsak, Björn
- Fleischer, Nicole
- Gabriel, Heinz
- Graul-Neumann, Luitgard
- Gripp, Karen W
- Gurovich, Yaron
- Gusina, Asya
- Haddad, Nechama
- Hajjir, Nurulhuda
- Hanani, Yair
- Hertzberg, Jakob
- Hoertnagel, Konstanze
- Howell, Janelle
- Ivanovski, Ivan
- Kaindl, Angela
- Kamphans, Tom
- Kamphausen, Susanne
- Karimov, Catherine
- Kathom, Hadil
- Keryan, Anna
- Knaus, Alexej
- Köhler, Sebastian
- Kornak, Uwe
- Lavrov, Alexander
- Leitheiser, Maximilian
- Lyon, Gholson J
- Mangold, Elisabeth
- Reina, Purificación Marín
- Carrascal, Antonio Martinez
- Mitter, Diana
- Herrador, Laura Morlan
- Nadav, Guy
- Nöthen, Markus
- Orrico, Alfredo
- Ott, Claus-Eric
- Park, Kristen
- Peterlin, Borut
- Pölsler, Laura
- Raas-Rothschild, Annick
- Randolph, Linda
- Revencu, Nicole
- Fagerberg, Christina Ringmann
- Robinson, Peter Nick
- Rosnev, Stanislav
- Rudnik, Sabine
- Rudolf, Gorazd
- Schatz, Ulrich
- Schossig, Anna
- Schubach, Max
- Shanoon, Or
- Sheridan, Eamonn
- Smirin-Yosef, Pola
- Spielmann, Malte
- Suk, Eun-Kyung
- Sznajer, Yves
- Thiel, Christian T
- Thiel, Gundula
- Verloes, Alain
- Vrecar, Irena
- Wahl, Dagmar
- Weber, Ingrid
- Winter, Korina
- Wiśniewska, Marzena
- Wollnik, Bernd
- Yeung, Ming W
- Zhao, Max
- Zhu, Na
- Zschocke, Johannes
- Mundlos, Stefan
- Horn, Denise
- Krawitz, Peter M
Producer: 20200501
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
Availability: No items available.
|