Results
|
1641.
|
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.
|
|
1642.
|
|
|
1643.
|
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. [electronic resource] by
- Hufnagel, Robert B
- Arno, Gavin
- Hein, Nichole D
- Hersheson, Joshua
- Prasad, Megana
- Anderson, Yvonne
- Krueger, Laura A
- Gregory, Louise C
- Stoetzel, Corinne
- Jaworek, Thomas J
- Hull, Sarah
- Li, Abi
- Plagnol, Vincent
- Willen, Christi M
- Morgan, Thomas M
- Prows, Cynthia A
- Hegde, Rashmi S
- Riazuddin, Saima
- Grabowski, Gregory A
- Richardson, Rudy J
- Dieterich, Klaus
- Huang, Taosheng
- Revesz, Tamas
- Martinez-Barbera, J P
- Sisk, Robert A
- Jefferies, Craig
- Houlden, Henry
- Dattani, Mehul T
- Fink, John K
- Dollfus, Helene
- Moore, Anthony T
- Ahmed, Zubair M
Producer: 20160222
In:
Journal of medical genetics vol. 52
Availability: No items available.
|
|
1644.
|
Adverse effects of topical corticosteroids in paediatric eczema: Australasian consensus statement. [electronic resource] by
- Mooney, Emma
- Rademaker, Marius
- Dailey, Rebecca
- Daniel, Ben S
- Drummond, Catherine
- Fischer, Gayle
- Foster, Rachael
- Grills, Claire
- Halbert, Anne
- Hill, Sarah
- King, Emma
- Leins, Elizabeth
- Morgan, Vanessa
- Phillips, Roderic J
- Relic, John
- Rodrigues, Michelle
- Scardamaglia, Laura
- Smith, Saxon
- Su, John
- Wargon, Orli
- Orchard, David
Producer: 20170111
In:
The Australasian journal of dermatology vol. 56
Availability: No items available.
|
|
1645.
|
|
|
1646.
|
|
|
1647.
|
|
|
1648.
|
|
|
1649.
|
|
|
1650.
|
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. [electronic resource] by
- Fantauzzo, Katherine A
- Tadin-Strapps, Marija
- You, Yun
- Mentzer, Sarah E
- Baumeister, Friedrich A M
- Cianfarani, Stefano
- Van Maldergem, Lionel
- Warburton, Dorothy
- Sundberg, John P
- Christiano, Angela M
Producer: 20081117
In:
Human molecular genetics vol. 17
Availability: No items available.
|
|
1651.
|
|
|
1652.
|
ABCC9-related Intellectual disability Myopathy Syndrome is a K [electronic resource] by
- Smeland, Marie F
- McClenaghan, Conor
- Roessler, Helen I
- Savelberg, Sanne
- Hansen, Geir Åsmund Myge
- Hjellnes, Helene
- Arntzen, Kjell Arne
- Müller, Kai Ivar
- Dybesland, Andreas Rosenberger
- Harter, Theresa
- Sala-Rabanal, Monica
- Emfinger, Chris H
- Huang, Yan
- Singareddy, Soma S
- Gunn, Jamie
- Wozniak, David F
- Kovacs, Attila
- Massink, Maarten
- Tessadori, Federico
- Kamel, Sarah M
- Bakkers, Jeroen
- Remedi, Maria S
- Van Ghelue, Marijke
- Nichols, Colin G
- van Haaften, Gijs
Producer: 20200106
In:
Nature communications vol. 10
Availability: No items available.
|
|
1653.
|
|
|
1654.
|
|