Works matching AU Hopkin, Robert J

Results: 65

Alu element insertion in <italic>PKLR</italic> gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.

Published in:

Human Mutation, 2018, v. 39, n. 3, p. 389, doi. 10.1002/humu.23392

By:

Lesmana, Harry;
Dyer, Lisa;
Li, Xia;
Denton, James;
Griffiths, Jenna;
Chonat, Satheesh;
Seu, Katie G.;
Heeney, Matthew M.;
Zhang, Kejian;
Hopkin, Robert J.;
Kalfa, Theodosia A.

Publication type:

Article

Fabry disease and COVID-19: international expert recommendations for management based on real-world experience.

Published in:

Clinical Kidney Journal, 2020, v. 13, n. 6, p. 913, doi. 10.1093/ckj/sfaa227

By:

Laney, Dawn A;
Germain, Dominique P;
Oliveira, João Paulo;
Burlina, Alessandro P;
Cabrera, Gustavo Horacio;
Hong, Geu-Ru;
Hopkin, Robert J;
Niu, Dau-Ming;
Thomas, Mark;
Trimarchi, Hernán;
Wilcox, William R;
Politei, Juan Manuel;
Ortiz, Alberto

Publication type:

Article

Severe Micrognathia: Indications for EXIT-to-Airway.

Published in:

Fetal Diagnosis & Therapy, 2009, v. 26, n. 3, p. 162, doi. 10.1159/000240162

By:

Morris, Lee M.;
Lim, Foong-Yen;
Elluru, Ravindhra G.;
Hopkin, Robert J.;
Jaekle, Ronald K.;
Polzin, William J.;
Crombleholme, Timothy M.

Publication type:

Article

The phenotypic spectrum of the Cornelia de Lange‐like "Alazami‐Yuan syndrome": A case report of the 7th diagnosed individual and review of the literature.

Published in:

2025

By:

Pappas, Annie;
Mooney, Mary;
Kohnen, Katherine;
Owens, Joshua W.;
Zhang, Wenying;
Hopkin, Robert J.;
Shillington, Amelle

Publication type:

Case Study

RMND1 and PLN variants are the underlying cause of Perrault‐like syndrome and cardiac anomalies in a patient.

Published in:

2024

By:

Du, Xiaoli;
Barnett, Cara L.;
Widmeyer, Kimberly M.;
Wang, Xinjian;
Brightman, Diana S.;
Noonan, Carolee W.;
Weaver, Kathryn N.;
Hopkin, Robert J.;
Wu, Yaning

Publication type:

Case Study

Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial.

Published in:

PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0124987

By:

Wijburg, Frits A.;
Bénichou, Bernard;
Bichet, Daniel G.;
Clarke, Lorne A.;
Dostalova, Gabriela;
Fainboim, Alejandro;
Fellgiebel, Andreas;
Forcelini, Cassiano;
An Haack, Kristina;
Hopkin, Robert J.;
Mauer, Michael;
Najafian, Behzad;
Scott, C. Ronald;
Shankar, Suma P.;
Thurberg, Beth L.;
Tøndel, Camilla;
Tylki-Szymańska, Anna;
Ramaswami, Uma

Publication type:

Article

Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion)

Published in:

Otolaryngology-Head & Neck Surgery, 2004, v. 130, n. 4, p. 415, doi. 10.1016/j.otohns.2003.12.014

By:

Miyamoto, R. Christopher;
Cotton, Robin T.;
Rope, Alan F.;
Hopkin, Robert J.;
Cohen, Aliza P.;
Shott, Sally R.;
Rutter, Michael J.

Publication type:

Article

Development of a Web-Based Genetics Institute for a Nursing Audience.

Published in:

Journal of Continuing Education in Nursing, 2004, v. 35, n. 5, p. 223, doi. 10.3928/0022-0124-20040901-10

By:

Prows, Cynthia A.;
Hetteberg, Carol;
Hopkin, Robert J.;
Latta, Kathy K.;
Powers, Susan M.

Publication type:

Article

Early-Lethal Costello Syndrome Due to Rare HRAS Tandem Base Substitution (c.35_36GC>AA; p.G12E)-Associated Pulmonary Vascular Disease.

Published in:

Pediatric & Developmental Pathology, 2014, v. 17, n. 6, p. 421, doi. 10.2350/14-05-1488-OA.1

By:

WEAVER, K. NICOLE;
WANG, DEHUA;
CNOTA, JAMES;
GARDNER, NICHOLAS;
STABLEY, DEBORAH;
SOL-CHURCH, KATIA;
GRIPP, KAREN W.;
WITTE, DAVID P.;
BOVE, KEVIN E.;
HOPKIN, ROBERT J.

Publication type:

Article

Concurrent Course of Transient Neonatal Diabetes with Cholestasis and Paucity of Interlobular Bile Ducts: A Case Report.

Published in:

Pediatric & Developmental Pathology, 2009, v. 12, n. 5, p. 417, doi. 10.2350/09-03-0628-CR.1

By:

Kenny, Alan P.;
Crimmins, Nancy A.;
Mackay, Deborah J. G.;
Hopkin, Robert J.;
Bove, Kevin E.;
Leonis, Mike A.

Publication type:

Article

Case of Complex Craniofacial Anomalies, Bilateral Nasal Proboscides, Palatal Pituitary, Upper Limbs Reduction, and Amnion Rupture Sequence: Disorganization Phenotype?

Published in:

Pediatric & Developmental Pathology, 2001, v. 4, n. 2, p. 192, doi. 10.1007/s100240010131

By:

Stanek, Jerzy;
de Courten-Myers, Gabrielle;
Spaulding, Abbot G.;
Strub, William;
Hopkin, Robert J.

Publication type:

Article

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 10, p. 1912, doi. 10.1093/hmg/ddw064

By:

Sungkook Hong;
Ping Hu;
Marino, Juliana;
Hufnagel, Sophia B.;
Hopkin, Robert J.;
Toromanovic, Alma;
Richieri-Costa, Antonio;
Ribeiro-Bicudo, Lucilene A.;
Kruszka, Paul;
Roessler, Erich;
Muenke, Maximilian

Publication type:

Article

Adherence to Symptom-Based Care Guidelines for Down Syndrome.

Published in:

Clinical Pediatrics, 2017, v. 56, n. 2, p. 150, doi. 10.1177/0009922816652416

By:

Santoro, Stephanie L.;
Han Yin;
Hopkin, Robert J.

Publication type:

Article

Screening for Hematological Disorders in Mosaic Down Syndrome.

Published in:

Clinical Pediatrics, 2016, v. 55, n. 5, p. 421, doi. 10.1177/0009922815589911

By:

Santoro, Stephanie L.;
Martin, Lisa J.;
Hopkin, Robert J.

Publication type:

Article

An Update of Childhood Genetic Disorders.

Published in:

2013

By:

Prows, Cynthia A.;
Hopkin, Robert J.;
Barnoy, Sivia;
Van Riper, Marcia

Publication type:

Journal Article

A Case Study of a Female Infant With Primary Hypertrophic Osteoarthropathy Demonstrates That Early Initiation of Celecoxib Slows but Does Not Prevent Symptom Progression.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.64000

By:

Zehr, Kara;
Buckley, Morgan;
Owens, Joshua W.;
Vanagunas, Tomas;
Fernandez, Patricia Vega;
Hopkin, Robert J.;
Shillington, Amelle

Publication type:

Article

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 195, doi. 10.1002/ajmg.a.63397

By:

Serbinski, Carolyn R.;
Vanderwal, April;
Chadwell, Sarah E.;
Sanchez, Ana Isabel;
Hopkin, Robert J.;
Hufnagel, Robert B.;
Weaver, K. Nicole;
Prada, Carlos E.

Publication type:

Article

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 526, doi. 10.1002/ajmg.a.63057

By:

Baker, Elizabeth K.;
Brewer, Casey J.;
Ferreira, Leonardo;
Schapiro, Mark;
Tenney, Jeffrey;
Wied, Heather M.;
Kline‐Fath, Beth M.;
Smolarek, Teresa A.;
Weaver, K. Nicole;
Hopkin, Robert J.

Publication type:

Article

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3262, doi. 10.1002/ajmg.a.62946

By:

Baker, Elizabeth K.;
Solivio, Beulah;
Pode‐Shakked, Ben;
Cross, Laura Ann;
Sullivan, Bonnie;
Raas‐Rothschild, Annick;
Chorin, Odelia;
Barel, Ortal;
Bar‐Yosef, Omer;
Husami, Ammar;
Hopkin, Robert J.;
Prada, Carlos E.;
Stottmann, Rolf W.;
Weaver, Kathryn Nicole

Publication type:

Article

Robin sequence without cleft palate: Genetic diagnoses and management implications.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 160, doi. 10.1002/ajmg.a.62515

By:

Weaver, K. Nicole;
Sullivan, Bonnie R.;
Balow, Stephanie A.;
Hopkin, Sara;
Chini, Barbara A.;
Pan, Brian S.;
Stottmann, Rolf W.;
Bender, Patricia L.;
Hopkin, Robert J.;
Zhang, Xue;
Saal, Howard M.

Publication type:

Article

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2374, doi. 10.1002/ajmg.a.62251

By:

Li, Mindy;
Glass, Jennifer;
Du, Xiaoli;
Dubbs, Holly;
Harr, Margaret Horton;
Falk, Marni;
Smolarek, Teresa;
Hopkin, Robert J.;
Zackai, Elaine;
Sheppard, Sarah E.

Publication type:

Article

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 413, doi. 10.1002/ajmg.a.61977

By:

Abell, Katherine;
Hopkin, Robert J.;
Bender, Patricia L.;
Jackson, Farrah;
Smallwood, Kelly;
Sullivan, Bonnie;
Stottmann, Rolf W.;
Saal, Howard M.;
Weaver, K. Nicole

Publication type:

Article

A novel pathogenic variant in OFD1 results in X‐linked Joubert syndrome with orofaciodigital features and pituitary aplasia.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1010, doi. 10.1002/ajmg.a.61018

By:

Aljeaid, Deema;
Lombardo, Rachel C.;
Witte, David P.;
Hopkin, Robert J.

Publication type:

Article

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 542, doi. 10.1002/ajmg.a.61062

By:

Grand, Katheryn;
Gonzalez‐Gandolfi, Christina;
Ackermann, Amanda M.;
Aljeaid, Deema;
Bedoukian, Emma;
Bird, Lynne M.;
De Leon, Diva D.;
Diaz, Jullianne;
Hopkin, Robert J.;
Kadakia, Sejal P.;
Keena, Beth;
Klein, Karen O.;
Krantz, Ian;
Leon, Eyby;
Lord, Katherine;
McDougall, Carey;
Medne, Livija;
Skraban, Cara M.;
Stanley, Charles A.;
Tarpinian, Jennifer

Publication type:

Article

Congenital lumbar hernia–A feature of diabetic embryopathy?

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2243, doi. 10.1002/ajmg.a.40381

By:

Stevens, Cathy A.;
Hogue, Jacob S.;
Hopkin, Robert J.;
Lombardo, Rachel C.;
Schrier Vergano, Samantha A.

Publication type:

Article

Cardiopulmonary fitness assessment on maximal and submaximal exercise testing in patients with Fabry disease.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1852, doi. 10.1002/ajmg.a.40369

By:

Powell, Adam W.;
Jefferies, John L.;
Hopkin, Robert J.;
Mays, Wayne A.;
Goa, Zhiqian;
Chin, Clifford

Publication type:

Article

Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3075, doi. 10.1002/ajmg.a.38382

By:

Eppley, Sarah;
Hopkin, Robert J.;
Mendelsohn, Bryce;
Slavotinek, Anne M.

Publication type:

Article

Variable phenotype in a novel mutation in PHOX2B.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1705, doi. 10.1002/ajmg.a.38218

By:

Lombardo, Rachel C.;
Kramer, Elizabeth;
Cnota, James F.;
Sawnani, Hemant;
Hopkin, Robert J.

Publication type:

Article

Adolescents' preferences regarding disclosure of incidental findings in genomic sequencing that are not medically actionable in childhood.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2083, doi. 10.1002/ajmg.a.37730

By:

Hufnagel, Sophia B.;
Martin, Lisa J.;
Cassedy, Amy;
Hopkin, Robert J.;
Antommaria, Armand H. Matheny

Publication type:

Article

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2607, doi. 10.1002/ajmg.a.36688

By:

Hufnagel, Sophia B.;
Weaver, K Nicole;
Hufnagel, Robert B.;
Bader, Patricia I.;
Schorry, Elizabeth K.;
Hopkin, Robert J.

Publication type:

Article

Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1062, doi. 10.1002/ajmg.a.36390

By:

Weaver, K. Nicole;
El Hallek, Moussa;
Hopkin, Robert J.;
Sund, Kristen L.;
Henrickson, Michael;
del Gaudio, Daniela;
Yuksel, Adnan;
Acar, Gül Ozbilen;
Bober, Michael B.;
Kim, Jinoh;
Boyadjiev, Simeon A.

Publication type:

Article

Fractures in Children With Neurofibromatosis Type 1 From Two NF Clinics.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 921, doi. 10.1002/ajmg.a.35541

By:

George‐Abraham, Jaya K.;
Martin, Lisa J.;
Kalkwarf, Heidi J.;
Rieley, Margaret B.;
Stevenson, David A.;
Viskochil, David H.;
Hopkin, Robert J.;
Stevens, Austin M.;
Hanson, Heather;
Schorry, Elizabeth K.

Publication type:

Article

Tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1971, doi. 10.1002/ajmg.a.35428

By:

George-Abraham, Jaya K.;
Zimmerman, Sarah L.;
Hinton, Robert B.;
Marino, Bradley S.;
Witte, David P.;
Hopkin, Robert J.

Publication type:

Article

Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.

Published in:

Brain: A Journal of Neurology, 2022, v. 145, n. 9, p. 3274, doi. 10.1093/brain/awac164

By:

Donato, Nataliya Di;
Guerrini, Renzo;
Billington, Charles J;
Barkovich, A James;
Dinkel, Philine;
Freri, Elena;
Heide, Michael;
Gershon, Elliot S;
Gertler, Tracy S;
Hopkin, Robert J;
Jacob, Suma;
Keedy, Sarah K;
Kooshavar, Daniz;
Lockhart, Paul J;
Lohmann, Dietmar R;
Mahmoud, Iman G;
Parrini, Elena;
Schrock, Evelin;
Severi, Giulia;
Timms, Andrew E

Publication type:

Article

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 4, p. 1, doi. 10.1002/ajmg.c.32095

By:

Garzon, Jenny P.;
Patete, Andrea;
Aschbacher‐Smith, Lindsey;
Qu'd, Dima;
Kelly‐Mancuso, Geraldine;
Raski, Carolyn R.;
Weisman, Allison Goetsch;
Hankins, Madison;
Sawin, Michael;
Kim, Katherine;
Drackley, Andy;
Zeid, Janice;
Weaver, K. Nicole;
Hopkin, Robert J.;
Saal, Howard M.;
Charrow, Joel;
Schorry, Elizabeth;
Listernick, Robert;
Simpson, Brittany N.;
Prada, Carlos E.

Publication type:

Article

Listening to patients with suspected genetic diagnoses: A narrative perspective.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 2/3, p. 1, doi. 10.1002/ajmg.c.32079

By:

Slocum, Robert B.;
Hurst, Anna C. E.;
Shelley, Ellis;
Berry, Lisa;
Hopkin, Robert J.;
Rippert, Alyssa L.;
Bhoj, Elizabeth;
Graham, John M.;
Grand, Katheryn;
Gonzalez, Aixa;
Zarate, Yuri A.

Publication type:

Article

Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non‐invasive prenatal screen positive for monosomy X.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 294, doi. 10.1002/ajmg.c.31783

By:

Sund, Kristen L.;
Khattar, Divya;
Boomer, Theresa;
Caldwell, Samantha;
Dyer, Lisa;
Hopkin, Robert J.;
Smolarek, Teresa A.

Publication type:

Article

Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and down's syndrome.

Published in:

Annals of Neurology, 2004, v. 56, n. 6, p. 808

By:

Yang Tang;
Mark B. Schapiro;
David N. Franz;
Bonnie J. Patterson;
Francis J. Hickey;
Elizabeth K. Schorry;
Robert J. Hopkin;
Matthew Wylie;
Tina Narayan;
Tracy A. Glauser;
Donald L. Gilbert;
Andrew D. Hershey;
Frank R. Sharp

Publication type:

Article

Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome.

Published in:

2003

By:

Madden C;
Halsted MJ;
Hopkin RJ;
Choo DI;
Benton C;
Greinwald JH Jr.;
Madden, Colm;
Halsted, Mark J;
Hopkin, Robert J;
Choo, Daniel I;
Benton, Corning;
Greinwald, John H Jr

Publication type:

journal article

Temporal Bone Abnormalities Associated With Hearing Loss in Waardenburg Syndrome.

Published in:

Laryngoscope, 2003, v. 113, n. 11, p. 2035

By:

Colm Madden;
Mark J. Halsted;
Robert J. Hopkin;
Daniel I. Choo;
Corning Benton;
John H. Greinwald Jr.

Publication type:

Article

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.969

By:

Russell, Bianca E.;
Rigueur, Diana;
Weaver, Kathryn N.;
Sund, Kristen;
Basil, Janet S.;
Hufnagel, Robert B.;
Prows, Cynthia A.;
Oestreich, Alan;
Al‐Gazali, Lihadh;
Hopkin, Robert J;
Saal, Howard M.;
Lyons, Karen;
Dauber, Andrew

Publication type:

Article

Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia.

Published in:

Prenatal Diagnosis, 2014, v. 34, n. 13, p. 1326, doi. 10.1002/pd.4475

By:

Weaver, K. Nicole;
Johnson, Jodie;
Kline‐Fath, Beth;
Zhang, Xue;
Lim, Foong‐Yen;
Tinkle, Brad;
Saal, Howard M.;
Hopkin, Robert J.

Publication type:

Article

Variable presentation between a mother and a fetus with Goltz syndrome.

Published in:

Prenatal Diagnosis, 2013, v. 33, n. 12, p. 1211, doi. 10.1002/pd.4216

By:

Sellars, Elizabeth A.;
Wusik, Katie;
Weaver, K. Nicole;
Hopkin, Robert J.

Publication type:

Article

Posterior fossa anomalies diagnosed with fetal MRI: Associated anomalies and neurodevelopmental outcomes.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 1, p. 75, doi. 10.1002/pd.2911

By:

Patek, Kyla J.;
Kline-Fath, Beth M.;
Hopkin, Robert J.;
Pilipenko, Valentina V.;
Crombleholme, Timothy M.;
Spaeth, Christine G.

Publication type:

Article

Severe cervical scoliosis in the fetus.

Published in:

Prenatal Diagnosis, 2011, v. 31, n. 12, p. 1198, doi. 10.1002/pd.2898

By:

Prada, Carlos E.;
Sellars, Elizabeth A.;
Spaeth, Christine G.;
Kline-Fath, Beth M.;
Crombleholme, Timothy M.;
Hopkin, Robert J.

Publication type:

Article

Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.

Published in:

Annals of Human Genetics, 2024, v. 88, n. 1, p. 86, doi. 10.1111/ahg.12537

By:

Owens, Joshua w.;
Hopkin, Robert J.;
Martin, Lisa J.;
Kodani, Andrew;
Simpson, Brittany N.

Publication type:

Article

Fetal Magnetic Resonance Imaging (MRI) in Holoprosencephaly and Associations With Clinical Outcome: Implications for Fetal Counseling.

Published in:

Journal of Child Neurology, 2021, v. 36, n. 5, p. 357, doi. 10.1177/0883073820972290

By:

Riddle, Artur;
Nagaraj, Usha;
Hopkin, Robert J.;
Kline-Fath, Beth;
Venkatesan, Charu

Publication type:

Article

Early Spinal Cord and Brainstem Involvement in Infantile Leigh Syndrome Possibly Caused by a Novel Variant.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 12, p. 1681, doi. 10.1177/0883073812464273

By:

Tenney, Jeffrey R.;
Prada, Carlos E.;
Hopkin, Robert J.;
Hallinan, Barbara E.

Publication type:

Article

Complex genomic rearrangements of the Y chromosome in a premature infant.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00689-x

By:

Balow, Stephanie A.;
Coyan, Alyxis G.;
Smith, Nicki;
Russell, Bianca E.;
Monteil, Danielle;
Hopkin, Robert J.;
Smolarek, Teresa A.

Publication type:

Article

Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease.

Published in:

2021

By:

Hamed, Alaa;
DasMahapatra, Pronabesh;
Lyn, Nicole;
Gwaltney, Chad;
Hopkin, Robert J.

Publication type:

journal article