المؤلفون: Raja Padidela, Robert Yates, Dan Benscoter, Gary McPhail, Elaine Chan, Jaya Nichani, M. Zulf Mughal, Charles Myer, Omendra Narayan, Claire Nissenbaum, Stuart Wilkinson, Shanggen Zhou, Howard M. Saal

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Hypophosphatasia, Tracheobronchomalacia, Respiratory failure, Respiratory support, Asfotase alfa, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01483-9; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/5cf80021bb684fdfafeb46428d8e18f5

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

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)

مصطلحات موضوعية: atrial septal defect, BMP, bmpr1a protein, bone morphogenetic protein, human, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/294b475363534c688aa98334f4016174

المؤلفون: Joao McONeil Plancher, Robert B. Hufnagel, Achala Vagal, Katrina Peariso, Howard M. Saal, Joseph P. Broderick

المصدر: Case Reports in Neurology, Vol 7, Iss 2, Pp 142-147 (2015)

مصطلحات موضوعية: COL4A1, Cerebral small vessel disease, Heterozygous putatively pathogenic mutation, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.karger.com/Article/FullText/431309; https://doaj.org/toc/1662-680X

URL الوصول: https://doaj.org/article/15eb590ccaa64b8aa94fd59781f917d1

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

المصدر: American Journal of Medical Genetics Part A. 188:160-177

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Robin Sequence, Pierre Robin Syndrome, Respiratory distress, business.industry, Micrognathism, Glossoptosis, Infant, Newborn, Airway obstruction, medicine.disease, Feeding difficulty, Airway Obstruction, Cleft Palate, Management implications, Genetics, medicine, Humans, Medical diagnosis, medicine.symptom, Child, business, Genetics (clinical), Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::900946e97783d80b99e6220ba88a3510
https://doi.org/10.1002/ajmg.a.62515

المؤلفون: Ravi Savarirayan, Melita Irving, Paul Harmatz, Borja Delgado, William R. Wilcox, John Philips, Natalie Owen, Carlos A. Bacino, Louise Tofts, Joel Charrow, Lynda E. Polgreen, Julie Hoover-Fong, Paul Arundel, Ignacio Ginebreda, Howard M. Saal, Donald Basel, Rosendo Ullot Font, Keiichi Ozono, Michael B. Bober, Valerie Cormier-Daire, Kim-Hanh Le Quan Sang, Genevieve Baujat, Yasemin Alanay, Frank Rutsch, Daniel Hoernschemeyer, Klaus Mohnike, Hiroshi Mochizuki, Asako Tajima, Yumiko Kotani, David D. Weaver, Klane K. White, Clare Army, Kevin Larrimore, Keith Gregg, George Jeha, Claire Milligan, Elena Fisheleva, Alice Huntsman-Labed, Jonathan Day

مصطلحات موضوعية: Male, Anthropometrics, Pediatrics, Body Height, Achondroplasia, Annualized growth velocity, Child, Preschool, Humans, Female, Prospective Studies, Child, Observational, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f453eff204de636d775f291695fcb1b7
https://hdl.handle.net/10668/22253

المؤلفون: Howard M. Saal, Carlos A. Bacino, Klaus Mohnike, Daniel Hoernschemeyer, Paul Harmatz, Yumiko Kotani, Julie Hoover-Fong, Jonathan Day, Frank Rutsch, Keiichi Ozono, Alice Huntsman-Labed, Joel Charrow, Rosendo Ullot Font, Elena Fisheleva, Antonio Leiva-Gea, Felipe Luna-González, Donald Basel, Natsuo Yasui, Lynda E. Polgreen, Kala Jayaram, Hiroshi Mochizuki, Ravi Savarirayan, Ignacio Ginebreda, Louise Tofts, Paul Arundel, Michael B. Bober, William R. Wilcox, Yasemin Alanay, Klane K. White, Melita Irving, Dania M Porco

المساهمون: Acibadem University Dspace

المصدر: GENETICS IN MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 12
Genetics in Medicine

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Clinical Trials and Supportive Activities, Clinical Sciences, Brief Communication, Placebo, Achondroplasia, Growth velocity, Double-Blind Method, Clinical Research, Genetics, medicine, Humans, Child, Genetics (clinical), Vosoritide, Pediatric, Genetics & Heredity, Growth promoting, business.industry, Extension study, Natriuretic Peptide, C-Type, medicine.disease, Endochondral bone growth, Treatment Outcome, 6.1 Pharmaceuticals, Open label, business, General Economics, Econometrics and Finance

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a07ca192ca4d05488140084f1d5f490f
https://doi.org/10.1530/ey.19.5.3

المؤلفون: Stefanie Riddle, Howard M. Saal, Foong-Yen Lim, Michael J. Rutter, Paul S. Kingma

المصدر: NeoReviews. 22:e73-e77

مصطلحات موضوعية: medicine.medical_specialty, Placenta, Micrognathism, Ultrasonography, Prenatal, 03 medical and health sciences, Fetus, 0302 clinical medicine, Pregnancy, 030225 pediatrics, medicine, Humans, 030212 general & internal medicine, Prenatal vitamins, Obstetrics, Single umbilical artery, business.industry, Glossoptosis, Prenatal Care, medicine.disease, In utero, Pediatrics, Perinatology and Child Health, Gestation, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::691b84704235f2452d0b6d1334d80dc6
https://doi.org/10.1542/neo.22-1-e73

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

المصدر: Am J Med Genet A

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Microcephaly, Adolescent, Tracheoesophageal fistula, Haploinsufficiency, Article, GTP Phosphohydrolases, Cohort Studies, Young Adult, symbols.namesake, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Craniofacial, Child, Ribonucleoprotein, U5 Small Nuclear, Genetics (clinical), Sanger sequencing, business.industry, Infant, Mandibulofacial dysostosis, Middle Aged, Peptide Elongation Factors, medicine.disease, Phenotype, Child, Preschool, Mutation, Cohort, Spliceosomes, symbols, Female, business, Mandibulofacial Dysostosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce17a56829511947e073e6092e8dea2c
https://doi.org/10.1002/ajmg.a.61977

المؤلفون: Howard M. Saal

المصدر: Cassidy and Allanson's Management of Genetic Syndromes. :807-821

مصطلحات موضوعية: Combinatorics, Robin Sequence, business.industry, Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2a4b60197ac1be1084570cc31f9c8bf
https://doi.org/10.1002/9781119432692.ch50

المؤلفون: Marissa Vawter-Lee, Robert J. Hopkin, Leandra K. Tolusso, Stefanie Riddle, Maria A. Calvo-Garcia, Vivian Hwa, Nicki Smith, Howard M. Saal, Qiaoning Guan, Mounira Habli, Karin S. Bierbrauer, Katherine Abell

المصدر: Birth Defects Research. 112:1733-1737

مصطلحات موضوعية: 0301 basic medicine, Embryology, Pathology, medicine.medical_specialty, Health, Toxicology and Mutagenesis, AKT1, Prenatal diagnosis, 030105 genetics & heredity, Toxicology, medicine.disease_cause, Proteus Syndrome, 03 medical and health sciences, symbols.namesake, Pregnancy, Prenatal Diagnosis, medicine, Humans, Megalencephaly, Exome sequencing, Sanger sequencing, Mutation, business.industry, medicine.disease, Phenotype, Proteus syndrome, 030104 developmental biology, Pediatrics, Perinatology and Child Health, symbols, Female, business, Proto-Oncogene Proteins c-akt, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a26eeab41cfdbec951c462d1e01bceb
https://doi.org/10.1002/bdr2.1801

المؤلفون: Robert B. Hufnagel, Monica A Sandoval, Virginia Miraldi Utz, Howard M. Saal, Diana S Brightman

المصدر: Am J Med Genet C Semin Med Genet

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Micrognathism, Cortical visual impairment, Disease, Article, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Medical history, Global developmental delay, Child, Coffin–Siris syndrome, Genetics (clinical), Polydactyly, Mosaicism, business.industry, Macrocephaly, Brain, Infant, Nuclear Proteins, medicine.disease, eye diseases, Hypotonia, DNA-Binding Proteins, Phenotype, Child, Preschool, Face, Mutation, Female, medicine.symptom, business, Hand Deformities, Congenital, Neck, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d291c6d65d04c7ff937db2fce56651d
https://doi.org/10.1002/ajmg.c.31839

المؤلفون: Marissa Vawter-Lee, Craig A. Erickson, Amelle Shillington, Howard M. Saal, Katherine Abell, Davide Comoletti, Martine Lamy

المصدر: Journal of Autism and Developmental Disorders. 51:371-376

مصطلحات موضوعية: medicine.medical_specialty, Neurodevelopmental disorder, Feature (computer vision), Catatonia, Developmental and Educational Psychology, medicine, Autism, Natural (music), medicine.disease, Psychiatry, Psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6397d8b59c627ea06c06d198bdef7b8e
https://doi.org/10.1007/s10803-020-04531-2

المؤلفون: Ravi Savarirayan, William W Wilcox, Paul Harmatz, John Phillips III, Lynda E Polgreen, Louise Tofts, Keiichi Ozono, Paul Arundel, Melita Irving, Carlos A Bacino, Donald Basel, Michael B Bober, Joel Charrow, Hiroshi Mochizuki, Yumiko Kotani, Howard M Saal, George Jeha, Lynn Han, Elena Fisheleva, Alice Huntsman-Labed, Jonathan Day

المصدر: Journal of the Endocrine Society. 6:A591-A592

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0641d06d71e5365785cd672e557acacf
https://doi.org/10.1210/jendso/bvac150.1225

المؤلفون: Stephanie L. Santoro, Liming Bao, and Howard M. Saal

مصطلحات موضوعية: Chromosome 14q, Duplication, Terminal deletion, Cytogenomic array, Dysmorphic facial features, del: Deletion, dup: Duplication, NAHR: Non-Allelic Homologous Recombination, HIDA: Hydroxy Iminodiacetic Acid, GI: Gastrointestinal, CPAM: Congenital Cystic Adenomatoid Malformation

وصف الملف: application/pdf

Relation: http://medcraveonline.com/JPNC/JPNC-05-00174.php

الاتاحة: http://medcraveonline.com/JPNC/JPNC-05-00174.php

المؤلفون: Paul Arundel, Lynda E. Polgreen, Michael B. Bober, Ignacio Ginebreda, Ravi Savarirayan, Antonio Leiva-Gea, Louise Tofts, Hiroshi Mochizuki, Elena Fisheleva, Julie Hoover-Fong, Shoji Kagami, Kala Jayaram, Lynn Han, Dania M Porco, William R. Wilcox, Yasemin Alanay, Frank Rutsch, Howard M. Saal, Natsuo Yasui, Carlos A. Bacino, Klaus Mohnike, Donald Basel, Joel Charrow, Jonathan Day, Keiichi Ozono, Felipe Luna-González, Melita Irving, Rosendo Ullot Font, Daniel Hoernschemeyer, Paul Harmatz, Klane K. White

المصدر: Journal of the Endocrine Society, vol 5, iss Suppl 1
Journal of the Endocrine Society

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Growth promoting, business.industry, Emerging Endocrine Therapies Across the Lifespan, Endocrinology, Diabetes and Metabolism, Extension study, medicine.disease, Phase (combat), Pediatric Endocrinology, medicine, Achondroplasia, business, AcademicSubjects/MED00250, Vosoritide

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc0638b74dc8976ce1f0b2509b301215
https://escholarship.org/uc/item/1549x11s

المؤلفون: Howard M. Saal, Divya Khattar, Carlos E. Prada, Susan Wiley, Daniel I. Choo, Brittany N. Simpson, Lucy Marcheschi, Robert J. Hopkin

المصدر: European journal of medical genetics. 64(1)

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Disease, Choanal atresia, 030105 genetics & heredity, Aspiration pneumonia, Choanal Atresia, 03 medical and health sciences, CHARGE syndrome, Temporal bone, Genetics, medicine, Humans, Genetic Testing, Child, Genetics (clinical), Coloboma, business.industry, DNA Helicases, Infant, General Medicine, medicine.disease, DNA-Binding Proteins, Pneumonia, 030104 developmental biology, Phenotype, Child, Preschool, Cohort, Female, CHARGE Syndrome, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a5bc4924f489e72aea3b870602d4d26
https://pubmed.ncbi.nlm.nih.gov/33189935

المؤلفون: Klane K. White, Felipe Luna-Gonzáles, Antonio Leiva-Gea, Lynda E. Polgreen, Rosendo Ullot Font, Alice Huntsman-Labed, Donald Basel, Natsuo Yasui, Dania M Porco, Jonathan Day, Elena Fisheleva, Hiroshi Mochizuki, Melita Irving, Paul Harmatz, Keiichi Ozono, Daniel Hoernschmeyer, Yasemin Alanay, Julie Hoover-Fong, Joel Charrow, Kala Jayaram, Howard M. Saal, Frank Rutsch, Carlos A. Bacino, Klaus Mohnike, Ignacio Ginebreda, Paul Arundel, William R. Wilcox, Michael B. Bober, Ravi Savarirayan, Louise Tofts, Shoji Kagami

المصدر: Journal of the Endocrine Society
Journal of the Endocrine Society, vol 4, iss Suppl 1

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, law.invention, Randomized controlled trial, Pediatric Endocrinology, law, medicine, Pediatric Growth and Adrenal Disorders, Achondroplasia, business, AcademicSubjects/MED00250, Vosoritide

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa14886b197168b3e55303f0ea2159be
http://europepmc.org/articles/PMC7209563

المؤلفون: Syed Amir Zaidi, Howard M. Saal, Andrew P. Duker, Alberto J. Espay

المصدر: Journal of the Neurological Sciences. 403:114-116

مصطلحات موضوعية: Dystonia, Pediatrics, medicine.medical_specialty, Ataxia, Hereditary spastic paraplegia, business.industry, Clinical Neurology, medicine.disease, Neurology, medicine, Neurology (clinical), Spastic ataxia, medicine.symptom, business, Splenial, Sign (mathematics)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10fbc1e4d30441639b62fd0fb3b41e31
https://doi.org/10.1016/j.jns.2019.06.012

المؤلفون: Chair Lisa, J. Martin, Ph. D, Dawn Rothchild, Iris Sageser, Howard M. Saal

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: https://etd.ohiolink.edu/%21etd.send_file?accession%3Ducin1123868325%26disposition%3Dinline.

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1029.983

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1029.983

المؤلفون: Howard M. Saal, Brian J. Zikmund-Fisher, Beth A. Tarini, Michele C. Gornick, Wendy R. Uhlmann, Laurie Edmondson

المصدر: Clinical Pediatrics. 57:537-546

مصطلحات موضوعية: Male, medicine.medical_specialty, Attitude of Health Personnel, Sample (statistics), Primary care, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, Surveys and Questionnaires, 030225 pediatrics, medicine, Humans, 030212 general & internal medicine, Practice Patterns, Physicians', Family history, Child, Medical History Taking, Family Health, Primary Health Care, business.industry, Physicians, Family, Family medicine, Pediatrics, Perinatology and Child Health, Female, Clinical Competence, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::072b61331ae66fe8c51498c5fcc523fc
https://doi.org/10.1177/0009922817733693