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Graul‐Neumann, Luitgard M.
~ 100  Ergebnisse:
Personensuche X
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1

DDX3X mutations in two girls with a phenotype overlapping T..:

Dikow, Nicola ; Granzow, Martin ; Graul‐Neumann, Luitgard M....
American Journal of Medical Genetics Part A.  173 (2017)  5 - p. 1369-1373 , 2017
Link: https://doi.org/10.1002/..
 
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2

Marfan syndrome with neonatal progeroid syndrome‐like lipod..:

Graul‐Neumann, Luitgard M. ; Kienitz, Tina ; Robinson, Peter N....
American Journal of Medical Genetics Part A.  152A (2010)  11 - p. 2749-2755 , 2010
Link: https://doi.org/10.1002/..
 
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3

Interstitial deletion 2p11.2–p12: Report of a patient with ..:

Tzschach, Andreas ; Graul‐Neumann, Luitgard M. ; Konrat, Kateryna...
American Journal of Medical Genetics Part A.  149A (2009)  2 - p. 242-245 , 2009
Link: https://doi.org/10.1002/..
 
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4

Autosomal dominant inheritance in a large family with focal..:

Graul‐Neumann, Luitgard M. ; Stieler, Karola M. ; Blume‐Peytavi, Ulrike.
American Journal of Medical Genetics Part A.  149A (2009)  4 - p. 746-750 , 2009
Link: https://doi.org/10.1002/..
 
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5

Boy with pseudohypoparathyroidism type 1a caused by GNAS ge..:

Graul‐Neumann, Luitgard M. ; Bach, Alexia ; Albani, Michael...
American Journal of Medical Genetics Part A.  149A (2009)  7 - p. 1487-1493 , 2009
Link: https://doi.org/10.1002/..
 
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6

Highly variable cutis laxa resulting from a dominant splici..:

Graul‐Neumann, Luitgard M. ; Hausser, Ingrid ; Essayie, Maximilian..
American Journal of Medical Genetics Part A.  146A (2008)  8 - p. 977-983 , 2008
Link: https://doi.org/10.1002/..
 
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7

Czech dysplasia: Report of a large family and further delin..:

Tzschach, Andreas ; Tinschert, Sigrid ; Kaminsky, Elke...
American Journal of Medical Genetics Part A.  146A (2008)  14 - p. 1859-1864 , 2008
Link: https://doi.org/10.1002/..
 
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8

An intronic splice site alteration in combination with a la..:

Boschann, Felix ; Fischer-Zirnsak, Björn ; Wienker, Thomas F....
European Journal of Medical Genetics.  63 (2020)  9 - p. 103973 , 2020
Link: https://doi.org/10.1016/..
 
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9

Clinical report of 8 patients with 49,XXXXY syndrome: Delin..:

Burgemeister, Anna L. ; Daumiller, Eva ; du Bois, Gabriele...
European Journal of Medical Genetics.  62 (2019)  3 - p. 210-216 , 2019
Link: https://doi.org/10.1016/..
 
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10

Biallelic intragenic deletion inMASP1in an adult female wit..:

Graul-Neumann, Luitgard M. ; Mensah, Martin A. ; Klopocki, Eva...
European Journal of Medical Genetics.  61 (2018)  7 - p. 363-368 , 2018
Link: https://doi.org/10.1016/..
 
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11

Marfanoid–progeroid–lipodystrophy syndrome: a newly recogni..:

Passarge, Eberhard ; Robinson, Peter N ; Graul-Neumann, Luitgard M
European Journal of Human Genetics.  24 (2016)  9 - p. 1244-1247 , 2016
Link: https://doi.org/10.1038/..
 
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12

Interstitial 12p deletion involving more than 40 genes in a..:

Hoppe, Anne ; Heinemeyer, Jan ; Klopocki, Eva...
Meta Gene.  2 (2014)  - p. 72-82 , 2014
Link: https://doi.org/10.1016/..
 
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13

Spectrum of novel mutations found in Waardenburg syndrome t..:

Wildhardt, Gabriele ; Zirn, Birgit ; Graul-Neumann, Luitgard M...
BMJ Open.  3 (2013)  3 - p. e001917 , 2013
Link: https://doi.org/10.1136/..
 
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14

A NovelRAB33BMutation in Smith-McCort Dysplasia:

Dupuis, Nina ; Lebon, Sophie ; Kumar, Manoj...
Human Mutation.  34 (2012)  2 - p. 283-286 , 2012
Link: https://doi.org/10.1002/..
 
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15

Microdeletions of chromosome 7p21, including TWIST1, associ..:

Busche, Andreas ; Graul-Neumann, Luitgard M. ; Zweier, Christiane...
European Journal of Medical Genetics.  54 (2011)  3 - p. 256-261 , 2011
Link: https://doi.org/10.1016/..
 
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