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论文共 55 篇作者统计合作学者相似作者

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Genetic Counseling Access and Service Delivery in New York State is Variable for Parents of Infants with Complex CFTR Genotypes Conferring Uncertain Phenotypes

Denise M. Kay,Hossein Sadeghi,Catherine Kier,Maria Berdella,Joan K. DeCelie-Germana,Zafer N. Soultan,Danielle M. Goetz,Michele Caggana, Christopher N. Fortner,Robert Giusti,Robert Kaslovsky,Colleen Stevens,Karen Voter,John J. Welter,Elinor Langfelder-Schwind

PEDIATRIC PULMONOLOGYno. 7 (2024): 1952-1961

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Characterization of 223 Infants with CFTR-related Metabolic Syndrome/cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CRMS/CFSPID) Identified During the First Three Years of Newborn Screening Via IRT-DNA-SEQ in New York State

Hossein Sadeghi,Denise M. Kay,Elinor Langfelder-Schwind,Joan K DeCelie-Germana,Maria Berdella,Zafer N Soultan, Danielle M Goetz, Michele Caggana, Christopher N Fortner,Robert Giusti,Robert Kaslovsky, Colleen Stevens,Norma Tavakoli,Karen Voter,John J. Welter,Catherine Kier

Journal of Cystic Fibrosis (2024)

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New York Cystic Fibrosis Consortium Newborn Screening Quality Improvement: Development and Implementation of a Statewide Consensus Recommendations for Management of Infants with CFTR-related Metabolic Syndrome

Saroj Choudhary, Eleanor D. Muise, Soumia Hammouda, Danielle Goetz,Robert Giusti

PEDIATRIC PULMONOLOGY（2024）

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Variability in evaluation and follow-up of newborns with CRMS/CFSPID in New York State

Catherine Kier,Denise M. Kay,Elinor Langfelder-Schwind,Danielle M. Goetz,Maria Berdella,Joan K. DeCelie-Germana,Zafer N. Soultan,Michele Caggana, Christopher N. Fortner,Robert Giusti,Robert Kaslovsky,Karen Voter,John J. Welter,Hossein Sadeghi

Pediatric pulmonologyno. 5 (2024): 1511-1513

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EPS7.03 Variability in Evaluation and Follow-Up of Newborns with CFSPID/CRMS in New York State Cystic Fibrosis Specialty Care Centres

H. Sadeghi,C. Kier,D. Kay,E. Langfelder-Schwind,M. Berdella,J. DeCelie-Germana,Z. Soultan,D. Goetz,M. Caggana,A. Dozor,C. Fortner,R. Giusti,R. Kaslovsky,C. Stevens,K. Voter,J. Welter

Journal of Cystic Fibrosis (2023): S56-S56

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Meconium Ileus and Pancreatic Sufficiency with D1152H Mutation: A Case Report and Review of the Literature

Emma Lang,Bridget Kiernan,Eleanor D. Muise,Robert Giusti

Journal of cystic fibrosis official journal of the European Cystic Fibrosis Societyno. 6 (2023): 1125-1127

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601 High Normal Sweat Chloride Detected by Newborn Screening: is There a Role for Additional Genetic Testing

R. Giusti,R. Kaslovsky,H. Sadeghi,J. DeCelie-Germana,M. Berdella,J. Welter,C. Kier,C. Fortner,D. Goetz,K. Voter,D. Kay, E. Muise

Journal of Cystic Fibrosis (2023): S319

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592 Evolution of the New York State Cystic Fibrosis Newborn Screening Algorithm Through Continued Collaboration with Accredited Cystic Fibrosis Centers: 20-Year Experience

D. Kay,J. DeCelie-Germana,E. Langfelder-Schwind,D. Goetz,M. Berdella,Z. Soultan,A. Dozor,C. Fortner,R. Giusti,R. Kaslovsky,K. Voter,J. Welter,M. Caggana,C. Kier,H. Sadeghi

Journal of Cystic Fibrosis (2023): S314-S315

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Inclusivity of the North American Primary Ciliary Dyskinesia (PCD) Foundation Clinical Registry

M. G. O'Connor,M. W. Leigh,S. D. Dell,M. Rosenfeld, A. Griffiths,R. Giusti,S. D. Sagel, M. Manion,C. Kauffman,A. J. Shapiro

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2023)

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151 Variable Genetic Counseling Access and Services for Parents of Infants Who Screen Positive for Cystic Fibrosis in New York State

E. Langfelder-Schwind,D. Kay,M. Berdella, D. Joan,Z. Soultan,A. Dozor,C. Fortner,R. Giusti,D. Goetz,R. Kaslovsky,K. Voter,J. Welter,M. Caggana,H. Sadeghi,C. Kier

Journal of Cystic Fibrosis（2022）

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