P574: Molecular diagnosis of Prader-Willi and Angelman syndromes using methylation-specific MLPA von Toth, Jessica, Procter, Melinda, Pflaum, Anastasia, Fredrickson, Eric, Mao, Rong

Volltext

Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy von Van Winckel, Géraldine, Ballhausen, Diana, Wolf, Barry, Procter, Melinda, Mao, Rong, Burda, Patricie, Strambo, Davide, Kuntzer, Thierry, Tran, Christel

Volltext

Molecular Diagnosis of Prader-Willi and Angelman Syndromes by Methylation-Specific Melting Analysis and Methylation-Specific Multiplex Ligation-Dependent Probe Amplification von Procter, Melinda, Chou, Lan-Szu, Tang, Wei, Jama, Mohamed, Mao, Rong

Volltext

Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism von Punatar, Ruchi, Egense, Alena, Mao, Rong, Procter, Melinda, Bosworth, Michelle, Quigley, Denise I., Angkustsiri, Kathleen, Shankar, Suma P.

Volltext

α1 -Antitrypsin Deficiency in Fraternal Twins Born With Familial Spontaneous Pneumothorax von Greene, Dina N., PhD, Procter, Melinda, BS, Krautscheid, Patti, BS, Mao, Rong, MD, Lyon, Elaine, PhD, Grenache, David G., PhD

Volltext

Noncontinuously Binding Loop-Out Primers for Avoiding Problematic DNA Sequences in PCR and Sanger Sequencing von Sumner, Kelli, Swensen, Jeffrey J, Procter, Melinda, Jama, Mohamed, Wooderchak-Donahue, Whitney, Lewis, Tracey, Fong, Michael, Hubley, Lindsey, Schwarz, Monica, Ha, Youna, Paul, Eleri, Brulotte, Benjamin, Lyon, Elaine, Bayrak-Toydemir, Pinar, Mao, Rong, Pont-Kingdon, Genevieve, Best, D. Hunter

Volltext

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia von Lukacs, Viktor, Mathur, Jayanti, Mao, Rong, Bayrak-Toydemir, Pinar, Procter, Melinda, Cahalan, Stuart M., Kim, Helen J., Bandell, Michael, Longo, Nicola, Day, Ronald W., Stevenson, David A., Patapoutian, Ardem, Krock, Bryan L.

Volltext

eP005 - Impact of implementing customized ACMG/AMP variant interpretation guidelines to the BTD database von Mills, Maria, Coupal, Elena, Cone, Kelsey, Procter, Melinda, Pont-Kingdon, Genevieve, Mao, Rong

Volltext

Impact of implementing customized ACMG/AMP variant interpretation guidelines to the BTD database von Mills, Maria, Coupal, Elena, Cone, Kelsey, Procter, Melinda, Pont-Kingdon, Genevieve, Mao, Rong

Volltext

Forty-eight novel mutations causing biotinidase deficiency von Procter, Melinda, Wolf, Barry, Mao, Rong

Volltext

The Biotinidase Gene Variants Registry: A Paradigm Public Database von Procter, Melinda, Wolf, Barry, Crockett, David K, Mao, Rong

Volltext

Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients von Suh-Lailam, Brenda B, Procter, Melinda, Krautscheid, Patti, Haas, Jason, Kumar, Shiva, Mao, Rong, Grenache, David G

Volltext

Challenging Identification of a Novel PiISF and the Rare PiM^sub malton^Z [alpha]^sub 1^-Antitrypsin Deficiency Variants in Two Patients von Suh-Lailam, Brenda B, Procter, Melinda, Krautscheid, Patti, Haas, Jason, Kumar, Shiva, Mao, Rong, Grenache, David G

Volltext

Concordance of Butyrylcholinesterase Phenotype With Genotype: Implications for Biochemical Reporting von LAURA PARNAS, M, PROCTER, Melinda, SCHWARZ, Monica A, MAO, Rong, GRENACHE, David G

Volltext

A Patient with Prolonged Paralysis/Commentary/Commentary von Whittington, JoDell E, Pham, Hoai D, Procter, Melinda, Grenache, David G, Mao, Rong, Despotis, George, Goodall, Roberta

Volltext

A Patient with Prolonged Paralysis von WHITTINGTON, Jodell E, PHAM, Hoai D, PROCTER, Melinda, GRENACHE, David G, RONG MAO

Volltext

Evaluation of an integrative diagnostic algorithm for the identification of people at risk for α1 -Antitrypsin deficiency von BORNHORST, Joshua A, PROCTER, Melinda, MEADOWS, Cindy, ASHWOOD, Edward R, RONG MAO

Volltext

Misclassification of an apparent alpha 1-antitrypsin “Z” deficiency variant by melting analysis von Greene, Dina N., Procter, Melinda, Grenache, David G., Lyon, Elaine, Bornhorst, Joshua A., Mao, Rong

Volltext

Concordance of Butyrylcholinesterase Phenotype With Genotype von Parnas, M. Laura, Procter, Melinda, Schwarz, Monica A., Mao, Rong, Grenache, David G.

Volltext

Genotypes and serum concentrations of human alpha-1-antitrypsin “P” protein variants in a clinical population von Bornhorst, Joshua A, Calderon, Fernanda R O, Procter, Melinda, Tang, Wei, Ashwood, Edward R, Mao, Rong

Volltext