Newborn Screening for Pompe Disease: An Update, 2011BURTON, Barbara K.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 1, pp 8-12, issn 1552-4868, 5 p.Article

The Genotype―-Phenotype Correlation in Pompe DiseaseKROOS, Marian; HOOGEVEEN-WESTERVELD, Marianne; VAN DER PLOEG, Ans et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 1, pp 59-68, issn 1552-4868, 10 p.Article

Toward Deconstructing the Phenotype of Late-Onset Pompe DiseaseSCHULLER, Angela; WENNINGER, Stephan; STRIGL-PILL, Nicola et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 1, pp 80-88, issn 1552-4868, 9 p.Article

Autism and Intellectual Disability: Two Sides of the Same CoinSCHWARTZ, Charles E; NERI, Giovanni.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 2, issn 1552-4868, 55 p.Serial Issue

New Topics in the Skeletal DysplasiasUNGER, Sheila; BONAFE, Luisa; SUPERTI-FURGA, Andrea et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 3, issn 1552-4868, 96 p.Serial Issue

From Tall to Short: The Role of TGFβ Signaling in Growth and Its DisordersLE GOFF, Carine; CORMIER-DAIRE, Valérie.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 3, pp 145-153, issn 1552-4868, 9 p.Article

Mutation-Based Growth Charts for SEDC and other COL2A1 Related DysplasiasTERHAL, Paulien A; VAN DOMMELEN, Paula; HENNEKAM, Raoul C. M et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 3, pp 205-216, issn 1552-4868, 12 p.Article

The RSH/Smith―Lemli―Opitz Syndrome: Historical FootnoteOPITZ, John M; FURTADO, Larissa V.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 4, pp 242-249, issn 1552-4868, 8 p.Article

Cyclopia: An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and ResearchORIOLI, Iêda M; AMAR, Emmanuelle; LANDAU, Danielle et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 4, pp 344-357, issn 1552-4868, 14 p.Article

Argininosuccinate Lyase Deficiency— Argininosuccinic Aciduria and BeyondEREZ, Ayelet; SREENATH NAGAMANI, Sandesh C; LEE, Brendan et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 1, pp 45-53, issn 1552-4868, 9 p.Article

The Musculoskeletal Phenotype of the RASopathiesSTEVENSON, David A; YANG, Feng-Chun.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 2, pp 90-103, issn 1552-4868, 14 p.Article

How do We Know if an Exposure is Actually Teratogenic in Humans?FRIEDMAN, J. M.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 3, pp 170-174, issn 1552-4868, 5 p.Article

The Role of Teratology Information Services in Screening for Teratogenic Exposures: Challenges and OpportunitiesCHAMBERS, Christina.American journal of medical genetics. Part C, Seminars in medical genetics. 2011, Vol 157, Num 3, pp 195-200, issn 1552-4868, 6 p.Article

Holoprosencephaly: A Mythologic and Teratologic DistillateCOHEN, M. Michael.American journal of medical genetics. Part C, Seminars in medical genetics. 2010, Vol 154, Num 1, pp 8-12, issn 1552-4868, 5 p.Article

Genesis of Teratogen-Induced Holoprosencephaly in MiceLIPINSKI, Robert J; GODIN, Elizabeth A; O'LEARY-MOORE, Shonagh K et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2010, Vol 154, Num 1, pp 29-42, issn 1552-4868, 14 p.Article

Neuropathology of HoloprosencephalyMARCORELLES, Pascale; LAQUERRIERE, Annie.American journal of medical genetics. Part C, Seminars in medical genetics. 2010, Vol 154, Num 1, pp 109-119, issn 1552-4868, 11 p.Article

Holoprosencephaly and Holoprosencephaly-Like Phenotypes: Review of Facial and Molecular Findings in Patients From a Craniofacial Hospital in BrazilRICHIERI-COSTA, Antonio; ARILHO RIBEIRO, Lucilene.American journal of medical genetics. Part C, Seminars in medical genetics. 2010, Vol 154, Num 1, pp 149-157, issn 1552-4868, 9 p.Article

Sensory Modulation Impairments in Children with Williams SyndromeJOHN, Angela E; MERVIS, Carolyn B.American journal of medical genetics. Part C, Seminars in medical genetics. 2010, Vol 154, Num 2, pp 266-276, issn 1552-4868, 11 p.Article

The Behavioral Phenotype of FMR1 MutationsBOYLE, Lia; KAUFMANN, Walter E.American journal of medical genetics. Part C, Seminars in medical genetics. 2010, Vol 154, Num 4, pp 469-476, issn 1552-4868, 8 p.Article

Identification and Prioritization of Quality Indicators in Clinical Genetics: An International Survey : Quality in clinical GeneticsZELLERINO, Barbara C; MILLIGAN, Sharon A; GRAY, Jonathon R et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2009, Vol 151, Num 3, pp 179-190, issn 1552-4868, 12 p.Article

Religiosity, Spirituality, and Psychological Distress in African-Americans at Risk for Having a Hereditary Cancer Predisposing Gene MutationKINNEY, Anita Y; COXWORTH, James E; SIMONSON, Sara E et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2009, Vol 151, Num 1, pp 13-21, issn 1552-4868, 9 p.Conference Paper

Epidemic of Plurality and Contributions of Assisted Reproductive Technology ThereinKAPOOR, Monica; PAL, Lubna.American journal of medical genetics. Part C, Seminars in medical genetics. 2009, Vol 151, Num 2, pp 128-135, issn 1552-4868, 8 p.Article

Liver and Kidney Disease in CiliopathiesGUNAY-AYGUN, Meral.American journal of medical genetics. Part C, Seminars in medical genetics. 2009, Vol 151, Num 4, pp 296-306, issn 1552-4868, 11 p.Article

Ellis―van Creveld Syndrome and Weyers Acrodental Dysostosis Are Caused by Cilia-Mediated Diminished Response to Hedgehog LigandsRUIZ-PEREZ, Victor L; GOODSHIP, Judith A.American journal of medical genetics. Part C, Seminars in medical genetics. 2009, Vol 151, Num 4, pp 341-351, issn 1552-4868, 11 p.Article

The Patient as Person in an Increasingly Gene-Centric Universe : How Healthcare Professionals Should Think About Genomics and EvolutionJACKSON, Timothy P.American journal of medical genetics. Part C, Seminars in medical genetics. 2009, Vol 151, Num 1, pp 89-94, issn 1552-4868, 6 p.Conference Paper