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De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case report.

• Authors : Davarnia, Behzad¹ (AUTHOR) ; Panahi, Mohammad² (AUTHOR); Rahimi, Bahareh³ (AUTHOR)

• Source: Journal of Medical Case Reports. 1/5/2024, Vol. 18 Issue 1, p1-7. 7p.

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The molecular genetics of human appendicular skeleton.

• Authors : Ahmad, Safeer¹ (AUTHOR); Ali, Muhammad Zeeshan¹ (AUTHOR); Muzammal, Muhammad¹ (AUTHOR)

Subjects: *MOLECULAR genetics; *HUMAN skeleton; *HUMAN genetics

• Source: Molecular Genetics & Genomics. Sep2022, Vol. 297 Issue 5, p1195-1214. 20p.

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Improving comprehension of genetic counseling for hereditary breast and ovarian cancer clients with a visual tool.

• Authors : Tea, Muy-Kheng M.¹ ; Tan, Yen Y.¹; Staudigl, Christine^1,2

Subjects: *OVARIAN cancer; *GENETIC counseling; *MEDICAL informatics

• Source: PLoS ONE. 7/12/2018, Vol. 13 Issue 7, p1-10. 10p.

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Genetica populațiilor umane: un izolat clasificat recent cu tulburări psihice, neurologice și malformative.

• Authors : Lupu, Constantin G.¹ ; Broșteanu, Camelia²; Ciublea, Mihaela L.²

• Source: Journal for Neurology & Psychiatry of Child & Adolescent in Romania. jun2017, Vol. 23 Issue 2, p5-8. 4p.

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Prediction of the Probabilities of the Transmission of Genetic Traits within Bayesian Logical Inference.

• Authors : CEVRI, M.¹ ; ÜSTÜNDAĞ, D.²

• Source: Acta Physica Polonica: A. 2016, Vol. 130 Issue 1, p45-50. 6p.

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Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions.

• Authors : Vears, Danya F.; Boyle, Jackie; Jacobs, Chris

Subjects: GENETIC carriers; GENETIC testing; YOUNG adults

• Source: Twin Research & Human Genetics; Apr2023, Vol. 26 Issue 2, p188-194, 7p

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Screening of Duchenne Muscular Dystrophy (DMD) Mutations and Investigating Its Mutational Mechanism in Chinese Patients.

• Authors : Chen, Chen¹; Ma, Hongwei²; Zhang, Feng³

Subjects: *DIAGNOSIS of Duchenne muscular dystrophy; *DUCHENNE muscular dystrophy; *GENETIC mutation

• Source: PLoS ONE. Sep2014, Vol. 9 Issue 9, p1-7. 7p.

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Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing.

• Authors : Watson, Christopher M.¹; El-Asrag, Mohammed²; Parry, David A.³

Subjects: *GENETIC mutation; *GENETIC testing; *RETINAL degeneration

• Source: PLoS ONE. Aug2014, Vol. 9 Issue 8, p1-9. 9p.

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A systematic review and evidence assessment of monogenic gene–disease relationships in human female infertility and differences in sex development.

• Authors : Kelen, Annelore Van Der; Okutman, Özlem; Javey, Elodie

Subjects: FEMALE infertility; MALE infertility; GENITALIA

• Source: Human Reproduction Update; Mar/Apr2023, Vol. 29 Issue 2, p218-232, 15p

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Challenges and opportunities in genetic counseling for hereditary endocrine neoplasia syndromes.

• Authors : Brock, Pamela¹ ; Geurts, Jennifer L.²; Van Galen, Paulien³

Subjects: *GENETIC counseling; *HEREDITARY cancer syndromes; *MEDICAL personnel

• Source: Endocrine-Related Cancer. Aug2020, Vol. 27 Issue 8, p65-75. 11p.

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