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المؤلفون: Anna Rozensztrauch, Robert Smigiel, Izabella Uchmanowicz
المصدر: Journal of Neonatal Nursing. 27:341-346
مصطلحات موضوعية: Neonatal intensive care unit, Parental support, business.industry, Rationing, Pediatrics, 03 medical and health sciences, Nursing care, 0302 clinical medicine, Nursing, Discharge planning, 030225 pediatrics, Intensive care, Life support, Medicine, 030212 general & internal medicine, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e4c8541182c3df04078701cfaf38e3c4Test
https://doi.org/10.1016/j.jnn.2021.02.001Test -
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المؤلفون: Robert Smigiel, Piotr Gasperowicz, Michal Bloch, Magdalena Klaniewska, Ryszard Slezak, Agata Dzielendziak, Anna Rozensztrauch, Małgorzata Rydzanicz, Rafał Płoski, Dariusz Patkowski, Krystian Toczewski
المصدر: Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)مصطلحات موضوعية: Microcephaly, Clinodactyly, business.industry, Case Report, Tracheoesophageal fistula, familial occurrence, medicine.disease, Bioinformatics, Pediatrics, RJ1-570, tracheoesophageal fistula, Feingold syndrome, Atresia, MYCN, Pediatrics, Perinatology and Child Health, Medicine, esophageal atresia, Differential diagnosis, medicine.symptom, business, Haploinsufficiency, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58e91483ec0b17741786207de9139f9dTest
https://doi.org/10.3389/fped.2021.783553Test -
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المؤلفون: Yohane Miyata, Yonehiro Kanemura, Yuri Uchiyama, Fumihito Nozaki, Fumikatsu Nohara, Satomi Mitsuhashi, Satoshi Hada, Akihito Takeuchi, Fumihiko Ishida, Fumitaka Yoshioka, Hiroshi Terashima, Jiu Okuno-Yuguchi, Hirotomo Saitsu, Tadayuki Kumagai, Hidetoshi Taniguchi, Hiroshi Doi, Atsushi Takata, Atsuko Harada, Shinji Saitoh, Hitoshi Osaka, Eri Imagawa, Yusuke Mitani, Ayako Hattori, Yasuji Kitabatake, Koichi Tanda, Jun-ichi Takanashi, Atsushi Fujita, Hiroshi Arai, Ichiro Kuki, Makoto Kinoshita, Chikako Ogawa, Toshiyuki Itai, Yoshinori Tsurusaki, Yoshihiko Saito, Noriko Togashi, Noriko Miyake, Mazumi Miura, Hiroyuki Higashiyama, Masayasu Ohta, Yoshiichi Abe, Tetsuhiro Fukuyama, Yusuke Yachi, Tomoko Tandou, Etsuko Miyagi, Satoko Kumada, Shoko Shimokawa, Naomichi Matsumoto, Yuko Takei, Keiko Hirano, Satori Hirai, Keiichi Ozono, Yukihiro Kitai, Yuichi Takami, Mitsuo Motobayashi, Ryoko Honda, Masafumi Morimoto, Takaaki Nakano, Yuki Maki, Satoko Miyatake, Akihiko Ishiyama, Tatsuya Fukasawa, Mitsuhiro Kato, Yoshiteru Azuma, Robert Smigiel, Yushi Noguchi, Tsuyoshi Omi, Kohei Hamanaka, Naoki Ando, Masataka Taguri, Takeshi Mizuguchi, Chizuru Seiwa, Mitsuko Nakashima, Eriko Koshimizu, Shin Nabatame, Teruyuki Ishikura
المصدر: Journal of Medical Genetics. 58:505-513
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Neurology, Obstetrics, business.industry, Gestational age, medicine.disease, Posterior fossa abnormalities, Porencephaly, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Obstetrics and gynaecology, Schizencephaly, Genetics, medicine, Gestation, business, 030217 neurology & neurosurgery, Genetics (clinical), Ventriculomegaly
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f2dd2760375d155949c433d65a592c68Test
https://doi.org/10.1136/jmedgenet-2020-106896Test -
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المؤلفون: Joanna Chruszcz, Krystyna Szymańska, Mateusz Biela, Karolina Pieniawska-Smiech, Małgorzata Rydzanicz, Leszek Szenborn, Robert Smigiel, Malgorzata Kuzior-Plawiak, Lucyna Benben, Aleksandra Lewandowicz-Uszyńska, Aleksandra Jakubiak, Rafał Płoski, Pawel Szyld
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pes cavus, Pediatrics, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, Choreiform movement, Encephalopathy, relapsing encephalopathy, QH426-470, Clinical Reports, ATP1A3, Genetics, medicine, Humans, hypotonia, Molecular Biology, Genetics (clinical), Clinical Report, Cerebellar ataxia, business.industry, medicine.disease, Hypotonia, Phenotype, Child, Preschool, Mutation, whole‐exome sequencing, Female, Sensorineural hearing loss, Sodium-Potassium-Exchanging ATPase, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a37eb710b4406996eee74d941660d3b7Test
https://doi.org/10.1002/mgg3.1772Test -
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المؤلفون: Agnieszka Stembalska, Grażyna Kostrzewa, Robert Smigiel, Piotr Stawiński, Agnieszka Pollak, Mateusz Biela, Małgorzata Rydzanicz, Rafał Płoski
المصدر: Genes, Vol 12, Iss 1078, p 1078 (2021)
Genes
Volume 12
Issue 7مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, TMEM67, Prenatal diagnosis, 030105 genetics & heredity, QH426-470, Joubert syndrome, TMEM67 gene, 03 medical and health sciences, Meckel–Gruber syndrome, medicine, Polycystic kidney disease, Genetics, genetic and phenotypic diagnosis, prenatal and postnatal diagnosis, Genetics (clinical), Exome sequencing, Meckel-Gruber Syndrome, Genetic heterogeneity, business.industry, Molecular diagnostics, medicine.disease, 030104 developmental biology, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e5d87f180b4e2be751d052474268154Test
https://www.mdpi.com/2073-4425/12/7/1078Test -
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المؤلفون: Justyna Paprocka, Maria M. Sasiadek, Małgorzata Rydzanicz, Robert Smigiel, Mateusz Biela, Agnieszka Pollak, Rafał Płoski, Magdalena Klaniewska, Monika Gos, Ewelina Wolańska, Maria Jędrzejowska, Emilia Dębek
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)مصطلحات موضوعية: 0301 basic medicine, Proband, Pediatrics, medicine.medical_specialty, media_common.quotation_subject, Nonsense, Case Report, QH426-470, 030105 genetics & heredity, DAIPT, Compound heterozygosity, arthrogryposis, Frameshift mutation, 03 medical and health sciences, Genetics, medicine, Genetics (clinical), Exome sequencing, media_common, Arthrogryposis, impaired proprioception and touch, business.industry, heterozygous mutation, medicine.disease, 030104 developmental biology, Dysplasia, Molecular Medicine, PIEZO2, Congenital contracture, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d9d6b890c292c80e4a8d0fb6350b356Test
https://doi.org/10.3389/fgene.2021.620752Test -
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المؤلفون: Robert Smigiel, Rafał Płoski, Ewa Obersztyn, Mateusz Dawidziuk, Monika Bekiesińska-Figatowska, Małgorzata Rydzanicz, Pawel Gawlinski, Ryszard Slezak, Wojciech Wiszniewski, Agnieszka Pollak
المصدر: Genes
Genes, Vol 12, Iss 594, p 594 (2021)
Volume 12
Issue 4مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Microcephaly, Genotype, Cell Cycle Proteins, Nerve Tissue Proteins, Disease, QH426-470, Compound heterozygosity, Article, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, Genetics, Humans, Medicine, microcephaly, Gene, Genetics (clinical), ATRX, business.industry, WDR62 gene, Infant, Newborn, Infant, medicine.disease, Phenotype, Pedigree, Malformations of Cortical Development, MCPH2, 030104 developmental biology, intellectual disability, Mutation, Female, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::846490a642c7cf4bbff6d91b9eb94046Test
http://europepmc.org/articles/PMC8072659Test -
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المؤلفون: Anuja Lipsa, Inaki Irastorza, Elif Yilmaz Gulec, Elżbieta Szmida, Robert Smigiel, Gisèle Bonne, Mireille COSSEE, Tirso Pons, Edward Wylęgała, Joanne Kotelawala, Cristian Pattaro, Ihssane El Bouchikhi, Anna Doraczynska-Kowalik, Filip Van Nieuwerburgh, Maria Sasiadek, Vasudha Mishra, Ryszard Ślęzak, Eugenio Ferro, Mariana Santos, Nadezda Shilova, Joanna Kozłowska, Nurhuda Mohamad Ansor
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: 0106 biological sciences, 0303 health sciences, Pediatrics, medicine.medical_specialty, Abstracts Collection, business.industry, medicine.disease, 010603 evolutionary biology, 01 natural sciences, Fabry disease, 03 medical and health sciences, Genetics, medicine, business, Genetics (clinical), 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0afdb046a905c5efb2a5867e604e8624Test
https://doi.org/10.1038/s41431-019-0404-7Test -
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المؤلفون: Joanna Kosińska, Małgorzata Rydzanicz, Robert Smigiel, Rafał Płoski, Agnieszka Pollak, Piotr Stawiński, Ryszard Slezak, Maria M. Sasiadek
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)مصطلحات موضوعية: 0301 basic medicine, Proband, SON gene, Male, Pediatrics, medicine.medical_specialty, Heterozygote, lcsh:QH426-470, Developmental Disabilities, 030105 genetics & heredity, Gene mutation, Clinical Reports, Frameshift mutation, Hypoplastic left heart syndrome, Minor Histocompatibility Antigens, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Frameshift Mutation, Molecular Biology, Genetics (clinical), Clinical Report, business.industry, psychomotor delay, Syndrome, medicine.disease, Hypotonia, DNA-Binding Proteins, lcsh:Genetics, 030104 developmental biology, Phenotype, intellectual disability, Child, Preschool, Speech delay, Zhu‐Tokita‐Takenouchi‐Kim syndrome, medicine.symptom, business, Ventriculomegaly
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6f0010ba05f1995a7236783dc514ffdTest
http://europepmc.org/articles/PMC7549597Test -
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المؤلفون: Inaki Irastorza, Aleksandra Butrym, Robert Smigiel, Alexander Blakes, Meena Balasubramanian, Ihssane El Bouchikhi, Slavica Josifovska, Fernando Cardona, Grzegorz Mazur, Nuno Maia, Charles Steward, Ana Rita Marques, Amaka Offiah, Alexios A. Panoutsopoulos
المصدر: Eur J Hum Genet
مصطلحات موضوعية: medicine.medical_specialty, Abstracts Collection, business.industry, Circadian clock, Type 2 Diabetes Mellitus, medicine.disease, Internal medicine, Genetics, medicine, Cardiology, In patient, Myocardial infarction, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4e116b3517bed5c553666d1c234e7c0Test
https://europepmc.org/articles/PMC6876493Test/