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	1.	Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literature. [electronic resource] by Tönnies, Holger Neumann, Luitgard M Grüneberg, Berthild Neitzel, Heidemarie Producer: 20040428 In: American journal of medical genetics. Part A vol. 121A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy. [electronic resource] by Passarge, Eberhard Robinson, Peter N Graul-Neumann, Luitgard M Producer: 20170726 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims). [electronic resource] by Neumann, Luitgard M Scheer, Ianina Kunze, Jürgen Stöver, Brigitte Producer: 20040129 In: Pediatric radiology vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges. [electronic resource] by Yeowell, Heather N Walker, Linda C Neumann, Luitgard M Producer: 20060118 In: European journal of dermatology : EJD vol. 15 Availability: No items available. Save to lists Add to cart (remove)
	5.	Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl. [electronic resource] by Brunk, Irene Stöver, Brigitte Ikonomidou, Chrysanthy Brinckmann, Jürgen Neumann, Luitgard M Producer: 20040831 In: European journal of pediatrics vol. 163 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Restrictive dermopathy associated with transposition of the great arteries and microcolon: a rare neonatal entity with new symptoms. [electronic resource] by Armbrust, Sven Hoffmann, Rolf Jochum, Frank Neumann, Luitgard M Fusch, Christoph Producer: 20050620 In: Archives of dermatology vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation. [electronic resource] by Neumann, Luitgard M von Moers, Arpad Kunze, Jürgen Blankenstein, Oliver Marquardt, Thorsten Producer: 20040226 In: European journal of pediatrics vol. 162 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome). [electronic resource] by Graul-Neumann, Luitgard M Stieler, Karola M Blume-Peytavi, Ulrike Tzschach, Andreas Producer: 20090617 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. [electronic resource] by Graul-Neumann, Luitgard M Hausser, Ingrid Essayie, Maximilian Rauch, Anita Kraus, Cornelia Producer: 20080429 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Czech dysplasia: report of a large family and further delineation of the phenotype. [electronic resource] by Tzschach, Andreas Tinschert, Sigrid Kaminsky, Elke Lusga, Eugen Mundlos, Stefan Graul-Neumann, Luitgard M Producer: 20080820 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. [electronic resource] by Klopocki, Eva Neumann, Luitgard M Tönnies, Holger Ropers, Hans-Hilger Mundlos, Stefan Ullmann, Reinhard Producer: 20070116 In: European journal of human genetics : EJHG vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. [electronic resource] by Busche, Andreas Graul-Neumann, Luitgard M Zweier, Christiane Rauch, Anita Klopocki, Eva Horn, Denise Producer: 20110928 In: European journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	MR imaging features in Marinesco-Sjögren syndrome: severe cerebellar atrophy is not an obligatory finding. [electronic resource] by Reinhold, Anke Scheer, Ianina Lehmann, Rüdiger Neumann, Luitgard M Michael, Theodor Varon, Raymonda Von Moers, Arpad Producer: 20030619 In: AJNR. American journal of neuroradiology vol. 24 Availability: No items available. Save to lists Add to cart (remove)
	14.	De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation. [electronic resource] by Dutrannoy, Véronique Klopocki, Eva Wei, Ran Bommer, Christiane Mundlos, Stefan Graul-Neumann, Luitgard M Trimborn, Marc Producer: 20100201 In: European journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature. [electronic resource] by Tzschach, Andreas Graul-Neumann, Luitgard M Konrat, Kateryna Richter, Reyk Ebert, Grit Ullmann, Reinhard Neitzel, Heidemarie Producer: 20090406 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	A novel RAB33B mutation in Smith-McCort dysplasia. [electronic resource] by Dupuis, Nina Lebon, Sophie Kumar, Manoj Drunat, Séverine Graul-Neumann, Luitgard M Gressens, Pierre El Ghouzzi, Vincent Producer: 20130726 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism. [electronic resource] by Hoppe, Anne Heinemeyer, Jan Klopocki, Eva Graul-Neumann, Luitgard M Spors, Birgit Bittigau, Petra Kaindl, Angela M Producer: 20150121 In: Meta gene vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. [electronic resource] by Graul-Neumann, Luitgard M Bach, Alexia Albani, Michael Ringe, Hannelore Weimann, Andreas Kress, Wolfram Hiort, Olaf Bartsch, Oliver Producer: 20090923 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening. [electronic resource] by Reich, Susanne Hennermann, Julia Vetter, Barbara Neumann, Luitgard M Shin, Yoon S Söling, Ariane Mönch, Eberhard Kulozik, Andreas E Producer: 20021025 In: Pediatric research vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. [electronic resource] by Klopocki, Eva Graul-Neumann, Luitgard M Grieben, Ulrike Tönnies, Holger Ropers, Hans-Hilger Horn, Denise Mundlos, Stefan Ullmann, Reinhard Producer: 20090106 In: European journal of pediatrics vol. 167 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 41 results.