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Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay – New Cases With TRAF7 Variants

• Authors : Magdalena Nowak; Śmigiel Robert; Izabela Janik

Subjects: Medicine (General); business.industry; facial features

• Source: Frontiers in Medicine, Vol 8 (2021)Frontiers in Medicine

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Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

• Authors : Rudy Van Coster; Sarah Vergult; Olivier Vanakker ...

Subjects: 0301 basic medicine; Pediatrics; medicine.medical_specialty

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Association of Chemotherapy Timing in Pregnancy With Congenital Malformation

• Authors : van Gerwen, Mathilde; Maggen, Charlotte; Cardonick, Elyce ...

Subjects: Time Factors; Abnormalities, Drug-Induced/etiology; Miscarriage

• Source: JAMA Network OpenJAMA network open, 4(6):e202113180. American Medical AssociationJAMA network open, Vol. 4, no.6, p. e2113180 (2021)JAMA NETWORK OPENJama Network Open, 4(6).

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Bilateral polyotia: case of a rare and atypical congenital malformation in a three-month-old infant

• Authors : Emmanuel Choffor-Nchinda; Roger Christian Meva'a Biouélé

Subjects: Auricle; Reconstructive surgery; medicine.medical_specialty

• Source: The Pan African Medical Journal

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Isolated central sterna clefts: A rare congenital malformation

• Authors : Nahla Kechiche; Rachida Laamiri; Mohsen Belghith

Subjects: medicine.medical_specialty; Sternum; RD1-811

• Source: African Journal of Paediatric Surgery: AJPSAfrican Journal of Paediatric Surgery, Vol 18, Iss 2, Pp 117-118 (2021)

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De novo congenital malformation frequencies in children from the Bryansk region following the Chernobyl disaster (2000–2017)

• Authors : Timothy A. Mousseau; Emilia Geger; Leonid I. Pugach

Subjects: 0301 basic medicine; Pollutants; Physiology

• Source: HeliyonHeliyon, Vol 6, Iss 8, Pp e04616-(2020)

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Fifteen years' experience with methylphenidate for attention-deficit disorder during pregnancy: Effects on birth weight, Apgar score and congenital malformation rates

• Authors : M A Edens; P G J Ter Horst; E A Damer ...

Subjects: medicine.medical_specialty; Offspring; Birth weight

• Source: General Hospital Psychiatry, 73, 9-15. ELSEVIER SCIENCE INC

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Bifid Tongue and Cleft Palate: A Rare Congenital Malformation

• Authors : I Gusti Putu Hendra Sanjaya; Gede Wara Samsarga; I Made Suka Adnyana

Subjects: Epulis; Craniofacial abnormality; business.industry

• Source: Jurnal Plastik Rekonstruksi. 8:88-92

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Germline and mosaic variants in PRKACA and PRKACB cause a multiple congenital malformation syndrome

• Authors : Isabella Torrente; Geert Mortier; Lily Vu ...

Subjects: 0301 basic medicine; Male; Models, Molecular

• Source: The American journal of human geneticsPalencia-Campos, A, Aoto, P C, Machal, E M F, Rivera-Barahona, A, Soto-Bielicka, P, Bertinetti, D, Baker, B, Vu, L, Piceci-Sparascio, F, Torrente, I,

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The Latin American network for congenital malformation surveillance: ReLAMC

• Authors : Lucas Gabriel Gimenez; Marta Ascurra; Paula Hurtado-Villa

Subjects: education.field_of_study; Pediatrics; medicine.medical_specialty

• Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:1078-1091

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