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	21.	FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures. [electronic resource] by Schlade-Bartusiak, Kamilla Costa, Teresa Summers, Anne M Nowaczyk, Malgorzata J M Cox, Diane W Producer: 20080227 In: American journal of medical genetics. Part A vol. 138A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Fetus with renal agenesis and Smith-Lemli-Opitz syndrome. [electronic resource] by Nowaczyk, Małgorzata J M Eng, Barry Waye, John S Farrell, Sandra A Sirkin, Wilma L Producer: 20040220 In: American journal of medical genetics. Part A vol. 120A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay. [electronic resource] by Zahanova, Stacy Meaney, Brandon Łabieniec, Beata Verdin, Hannah De Baere, Elfride Nowaczyk, Małgorzata J M Producer: 20120601 In: Clinical dysmorphology vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability. [electronic resource] by Zeesman, Susan Kjaergaard, Susanne Hove, Hanne D Kirchhoff, Maria Stevens, Jadd M Nowaczyk, Małgorzata J M Producer: 20121105 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome. [electronic resource] by Waye, John S Eng, Barry Potter, Murray A Nowaczyk, Małgorzata J M McFadden, Deborah Langlois, Sylvie Producer: 20080116 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene. [electronic resource] by Eng, Barry Heshka, Tim Tarnopolsky, Mark A Nakamura, Lisa M Nowaczyk, Małgorzata J M Waye, John S Producer: 20041222 In: American journal of medical genetics. Part A vol. 128A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader-Willi syndrome: a new case and review of the literature. [electronic resource] by Nowaczyk, Małgorzata J M Zeesman, Susan Kam, April Taylor, Sherryl A M Carter, Ronald F Whelan, Donald T Producer: 20040728 In: American journal of medical genetics. Part A vol. 125A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. [electronic resource] by Miller, Garfield L Somani, Sohel Nowaczyk, Malgorzata J M Feigenbaum, Annette Davidson, Ronald G Costa, Teresa Levin, Alex V Producer: 20060504 In: Ophthalmic genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Growth charts for individuals with Smith-Lemli-Opitz syndrome. [electronic resource] by Lee, Ryan W Y McGready, John Conley, Sandra K Yanjanin, Nicole M Nowaczyk, Małgorzata J M Porter, Forbes D Producer: 20130621 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene. [electronic resource] by Nowaczyk, Małgorzata J M Huang, Lijia Tarnopolsky, Mark Schwartzentruber, Jeremy Majewski, Jacek Bulman, Dennis E Hartley, Taila Boycott, Kym M Producer: 20171019 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans. [electronic resource] by Wright, Brooke S Nwokoro, Ngozi A Wassif, Christopher A Porter, Forbes D Waye, John S Eng, Barry Nowaczyk, Małgorzata J M Producer: 20040210 In: American journal of medical genetics. Part A vol. 120A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. [electronic resource] by Lalovic, Aleksandra Merkens, Louise Russell, Laura Arsenault-Lapierre, Geneviève Nowaczyk, Malgorzata J M Porter, Forbes D Steiner, Robert D Turecki, Gustavo Producer: 20041202 In: The American journal of psychiatry vol. 161 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. [electronic resource] by Nowaczyk, Małgorzata J M Martin-Garcia, Diana Aquino-Perna, Angel Rodriguez-Vazquez, Miguel McCaughey, Donna Eng, Barry Nakamura, Lisa M Waye, John S Producer: 20040928 In: American journal of medical genetics. Part A vol. 125A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype. [electronic resource] by Prasad, Chitra Marles, Sandra Prasad, Asuri N Nikkel, Sarah Longstaffe, Sally Peabody, Deborah Eng, Barry Wright, Sarah Waye, John S Nowaczyk, Małgorzata J M Producer: 20020802 In: American journal of medical genetics vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). [electronic resource] by Waye, John S Krakowiak, Patrycja A Wassif, Christopher A Sterner, Allison L Eng, Barry Nakamura, Lisa M Nowaczyk, Małgorzata J M Porter, Forbes D Producer: 20060913 In: Human mutation vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. [electronic resource] by Zeesman, Susan Nowaczyk, Małgorzata J M Teshima, Ikuko Roberts, Wendy Cardy, Janis Oram Brian, Jessica Senman, Lili Feuk, Lars Osborne, Lucy R Scherer, Stephen W Producer: 20060530 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. [electronic resource] by Nowaczyk, Małgorzata J M Carter, Melissa T Xu, Jie Huggins, Marlene Raca, Gordana Das, Soma Martin, Christa Lese Schwartz, Stuart Rosenfield, Robert Waggoner, Darrel J Producer: 20080610 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)
	38.	Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. [electronic resource] by Clark, Dinah M Sherer, Ilana Deardorff, Matthew A Byrne, Janice L B Loomes, Kathleen M Nowaczyk, Malgorzata J M Jackson, Laird G Krantz, Ian D Producer: 20121105 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients. [electronic resource] by Wang, Jia-Chi Dang, Linda Lomax, Brenda Turner, Lesley Shago, Mary Teebi, Ahmad S Klatt, Regan MacLeod, Patrick M Yong, Siu-Li Nowaczyk, Malgorzata J M Eydoux, Patrice Producer: 20090416 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)
	40.	SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. [electronic resource] by Dauber, Andrew Golzio, Christelle Guenot, Cécile Jodelka, Francine M Kibaek, Maria Kjaergaard, Susanne Leheup, Bruno Martinet, Danielle Nowaczyk, Malgorzata J M Rosenfeld, Jill A Zeesman, Susan Zunich, Janice Beckmann, Jacques S Hirschhorn, Joel N Hastings, Michelle L Jacquemont, Sebastien Katsanis, Nicholas Producer: 20131230 In: American journal of human genetics vol. 93 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 56 results.