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Clinical dysmorphology

Showing results (1-10 of 1,886) with videos related to

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Clinical Dysmorphology|January 14, 2025
A de-novo loss-of-function variant of SMC1A gene in a girl with epilepsy and neurodevelopmental delayLeyla Özer, Ayşegül Alpcan, Süleyman Aktuna, et al.
Clinical Dysmorphology|March 12, 2025
Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian familyAditi Nilesh Shirodkar, K A Akhil, Vivekananda Bhat, et al.
Clinical Dysmorphology|March 12, 2025
Clinical and neuroimaging variability in two siblings with a novel PCDH12 variant: a case reportVykuntaraju K Gowda, Varunvenkat M Srinivasan, Amena Nayyer, et al.
Clinical Dysmorphology|March 12, 2025
Exploring the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant - first European family and literature reviewDiogo Fernandes da Rocha, Roberto Mendes Franco, Vera M F Santos, et al.
Clinical Dysmorphology|September 7, 2023
A familial rearrangement resulting in pure duplication of distal 19p13.3Nicole L Bain, Nicholas Koulouris, Rodney Scott, et al.
Clinical Dysmorphology|December 9, 2014
A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1Peter Holmquist
Clinical Dysmorphology|December 2, 2014
Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel studyMeena Balasubramanian, Bart E Wagner, Luiz C Peres, et al.
Clinical Dysmorphology|June 14, 2016
Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic faciesJillian Casey, Allan Jenkinson, Alex Magee, et al.
Clinical Dysmorphology|April 19, 2016
A critical region for ulnar defects in patients with 4q deletions may be narrowedIosif W Lurie
Clinical Dysmorphology|April 19, 2016
Microtia in Cornelia de Lange syndrome: a case from Democratic Republic of the CongoTony Kayembe Kitenge, Toni Kasole Lubala, Sebastien Mbuyi-Musanzayi, et al.
Pageof 189

Showing results (1-10 of 1,886) with videos related to

Sort By:
Pageof 189
Clinical Dysmorphology|January 14, 2025
A de-novo loss-of-function variant of SMC1A gene in a girl with epilepsy and neurodevelopmental delayLeyla Özer, Ayşegül Alpcan, Süleyman Aktuna, et al.
Clinical Dysmorphology|March 12, 2025
Report of a novel UBA2 variant causing Aplasia Cutis Congenita with Ectrodactyly syndrome (ACCES) in an Indian familyAditi Nilesh Shirodkar, K A Akhil, Vivekananda Bhat, et al.
Clinical Dysmorphology|March 12, 2025
Clinical and neuroimaging variability in two siblings with a novel PCDH12 variant: a case reportVykuntaraju K Gowda, Varunvenkat M Srinivasan, Amena Nayyer, et al.
Clinical Dysmorphology|March 12, 2025
Exploring the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant - first European family and literature reviewDiogo Fernandes da Rocha, Roberto Mendes Franco, Vera M F Santos, et al.
Clinical Dysmorphology|September 7, 2023
A familial rearrangement resulting in pure duplication of distal 19p13.3Nicole L Bain, Nicholas Koulouris, Rodney Scott, et al.
Clinical Dysmorphology|December 9, 2014
A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1Peter Holmquist
Clinical Dysmorphology|December 2, 2014
Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel studyMeena Balasubramanian, Bart E Wagner, Luiz C Peres, et al.
Clinical Dysmorphology|June 14, 2016
Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic faciesJillian Casey, Allan Jenkinson, Alex Magee, et al.
Clinical Dysmorphology|April 19, 2016
A critical region for ulnar defects in patients with 4q deletions may be narrowedIosif W Lurie
Clinical Dysmorphology|April 19, 2016
Microtia in Cornelia de Lange syndrome: a case from Democratic Republic of the CongoTony Kayembe Kitenge, Toni Kasole Lubala, Sebastien Mbuyi-Musanzayi, et al.
Pageof 189