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	1.	Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant. [electronic resource] by Faye, Eden Modaff, Peggy Pauli, Richard Legare, Janet Publication details: Molecular syndromology May 2019 In: Molecular syndromology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Airway malacia in children with achondroplasia. [electronic resource] by Dessoffy, Kimberly E Modaff, Peggy Pauli, Richard M Producer: 20140911 In: American journal of medical genetics. Part A vol. 164A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. [electronic resource] by Dwyer, Ellen Hyland, James Modaff, Peggy Pauli, Richard M Producer: 20110315 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Syringomyelia in hereditary multiple exostosis. [electronic resource] by Legare, Janet M Modaff, Peggy Iskandar, Bermans J Pauli, Richard M Producer: 20171019 In: American journal of medical genetics. Part A vol. 170 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Natural history of rhizomelic chondrodysplasia punctata. [electronic resource] by White, Amy L Modaff, Peggy Holland-Morris, Francesca Pauli, Richard M Producer: 20031128 In: American journal of medical genetics. Part A vol. 118A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	The effect of disruptions during counseling on recall of genetic risk information: the case of cystic fibrosis. [electronic resource] by Dillard, James Price Shen, Lijiang Tluczek, Audrey Modaff, Peggy Farrell, Philip Producer: 20070531 In: Journal of genetic counseling vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. [electronic resource] by Borovik, Lior Modaff, Peggy Waterham, Hans R Krentz, Anthony D Pauli, Richard M Producer: 20131017 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Acanthosis nigricans in achondroplasia. [electronic resource] by Smid, Cory J Modaff, Peggy Alade, Adekemi Legare, Janet M Pauli, Richard M Producer: 20191029 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Weight gain velocity in infants with achondroplasia. [electronic resource] by Buratti, Madeleine E Eickhoff, Jens Modaff, Peggy Pauli, Richard M Legare, Janet M Producer: 20201228 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. [electronic resource] by Legare, Janet M Modaff, Peggy Strom, Samuel P Pauli, Richard M Bartlett, Heather L Producer: 20190925 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth. [electronic resource] by Raca, Gordana Artzer, Amber Thorson, Laura Huber, Suzanne Modaff, Peggy Laffin, Jennifer Pauli, Richard M Producer: 20100106 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)
	12.	An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias. [electronic resource] by Sobreira, Nara Modaff, Peggy Steel, Gary You, Jing Nanda, Sonia Hoover-Fong, Julie Valle, David Pauli, Richard M Producer: 20150819 In: American journal of medical genetics. Part A vol. 167A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	A tailored approach to family-centered genetic counseling for cystic fibrosis newborn screening: the Wisconsin model. [electronic resource] by Tluczek, Audrey Zaleski, Christina Stachiw-Hietpas, Dania Modaff, Peggy Adamski, Craig R Nelson, Megan R Reiser, Catherine A Ghate, Sumedha Josephson, Kevin D Producer: 20110531 In: Journal of genetic counseling vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Newborn screening for cystic fibrosis: parents' preferences regarding counseling at the time of infants' sweat test. [electronic resource] by Tluczek, Audrey Koscik, Rebecca L Modaff, Peggy Pfeil, Darci Rock, Michael J Farrell, Philip M Lifchez, Caroline Freeman, Mary Ellen Gershan, William Zaleski, Christina Sullivan, Bradley Producer: 20070118 In: Journal of genetic counseling vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Multicenter study of mortality in achondroplasia. [electronic resource] by Hashmi, S Shahrukh Gamble, Candace Hoover-Fong, Julie Alade, Adekemi Yewande Pauli, Richard M Modaff, Peggy Carney, Meagan Brown, Cassondra Bober, Michael B Hecht, Jacqueline T Producer: 20190925 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. [electronic resource] by Jurgens, Julie Sobreira, Nara Modaff, Peggy Reiser, Catherine A Seo, Soo Hyun Seong, Moon-Woo Park, Sung Sup Kim, Ok Hwa Cho, Tae-Joon Pauli, Richard M Producer: 20160629 In: Human mutation vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. [electronic resource] by Hoover-Fong, Julie Sobreira, Nara Jurgens, Julie Modaff, Peggy Blout, Carrie Moser, Ann Kim, Ok-Hwa Cho, Tae-Joon Cho, Sung Yoon Kim, Sang Jin Jin, Dong-Kyu Kitoh, Hiroshi Park, Woong-Yang Ling, Hua Hetrick, Kurt N Doheny, Kimberly F Valle, David Pauli, Richard M Producer: 20140224 In: American journal of human genetics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)